ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain [Homo sapiens] - Gene

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Summary

Official Symbol: ACADMprovided by HGNC
Official Full Name: acyl-CoA dehydrogenase, C-4 to C-12 straight chainprovided by HGNC
Primary source: HGNC:89
Locus tag: RP4-682C21.1
See related: Ensembl:ENSG00000117054; HPRD:08447; MIM:607008; Vega:OTTHUMG00000009784
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MCAD; ACAD1; MCADH; FLJ18227; FLJ93013; FLJ99884
Summary: This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 1p31

Sequence :: Chromosome: 1; NC_000001.10 (76190043..76229355)

See ACADM in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

physiological concentrations of flavin adenine dinucleotide resulted in a spectacular enhancement of the thermal stabilities of MCADH and prevented enzymatic activity loss
Title: Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases.
The mutation in Medium-chain acyl-CoA dehydrogenase deficiency is the first report of the c.461T>G mutation in the acyl-CoA dehydrogenase gene.
Title: Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
classification of genotypes with at least one variant of unknown significance in individuals who are carriers of, or affected with, MCAD deficiency of the following genotypes: c.985A>G/wildtype, c.199T>C/c.985A>G and c.985A>G/c.985A>G
Title: Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.
In the medium-chain acyl-CoA dehydrogenase, the 985G mutant and 985A normal alleles had allelic frequencies of 0.0020 and 0.9980, respectively.
Title: A985G mutation incidence in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Brazil.
Protein misfolding of MCAD protein is the molecular basis in medium-chain acyl-CoA dehydrogenase deficiency.
Title: Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening.
study indicates that c.449-452delCTGA represents a common mutation in Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
Title: A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD.
Ethnic-specific homozygous adenin/guanine substitution in an ACADM birth prevalence from a large-scale United Kingdom newborn screening study.
Title: Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Measurement of MCAD activity in leukocytes or lymphocytes using phenylpropionyl-CoA as a substrate can be regarded as the gold standard to diagnose MCAD deficiency upon initial positive screening test results.
Title: Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency.

Submit: New GeneRIF Correction See all (21)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

A genome-wide perspective of genetic variation in human metabolism.

Acyl-CoA dehydrogenase, medium chain, deficiency of

MIM: 201450

Medium-chain acyl-coenzyme A dehydrogenase (MCAD) is one of the enzymes involved in mitochondrial fatty acid -oxidation, which fuels hepatic ketogenesis, a major source of energy once hepatic glycogen stores become depleted during prolonged fasting and periods of higher energy demands. In a typical clinical scenario, a previously healthy child with MCAD deficiency presents with hypoketotic hypoglycemia, vomiting, and lethargy triggered by a common illness. Seizures may occur. Hepatomegaly and liver disease are often present during an acute episode, which can quickly progress to coma and death. Children are normal at birth and if not identified through newborn screening typically present between ages three and 24 months; later presentation, even into adulthood, is possible. The prognosis is excellent once the diagnosis is established and frequent feedings are instituted to avoid any prolonged period of fasting. Diagnosis/testing. Diagnosis requires the integrated interpretation of multiple analyses, including consideration of the clinical status of the affected individual (i.e., acutely symptomatic vs asymptomatic) at the time of sample collection. Initial testing should include the following analyses and their proper interpretation: Plasma acylcarnitines . Urine organic acids. Urine acylglycines . The biochemical diagnosis of MCAD deficiency can be confirmed by: Determination of fatty acid -oxidation in fibroblasts; Measurement of MCAD enzyme activity in fibroblasts or other tissues; and/or . Molecular genetic testing of ACADM. The latter two tests can be used for prenatal diagnosis. Based on newborn screening results, approximately 50% of individuals are homozygous for the common mutation Lys304Glu, and approximately 40% are heterozygous for Lys304Glu and one of more than 90 rarer alleles. Molecular genetic testing is available on a clinical basis. Management. Treatment of manifestations: Most important is giving simple carbohydrates by mouth (e.g., glucose tablets, or sweetened, non-diet beverages) or IV if needed to reverse catabolism and sustain anabolism. Prevention of primary manifestations: The mainstay is avoidance of fasting: infants require frequent feedings; toddlers could be placed on a relatively low-fat diet (e.g., <30% of total energy from fat) and could receive 2 g/kg of uncooked cornstarch at bedtime to ensure sufficient glucose overnight. Prevention of secondary complications: Weight control measures including proper nutrition and exercise. Agents/circumstances to avoid: Hypoglycemia (e.g., from excessive fasting); infant formulas that contain medium-chain triglycerides as the primary source of fat. Evaluation of relatives at risk: Evaluate plasma acylcarnitine concentration and urine acylglycine in sibs and parents to permit early diagnosis and treatment of previously asymptomatic at-risk family members.

Diagnosis Testing

Diagnosis requires the integrated interpretation of multiple analyses, including consideration of the clinical status of the affected individual (i.e., acutely symptomatic vs asymptomatic) at the time of sample collection. Initial testing should include the following analyses and their proper interpretation: Plasma acylcarnitines . Urine organic acids. Urine acylglycines . The biochemical diagnosis of MCAD deficiency can be confirmed by: Determination of fatty acid -oxidation in fibroblasts; Measurement of MCAD enzyme activity in fibroblasts or other tissues; and/or . Molecular genetic testing of ACADM. The latter two tests can be used for prenatal diagnosis. Based on newborn screening results, approximately 50% of individuals are homozygous for the common mutation Lys304Glu, and approximately 40% are heterozygous for Lys304Glu and one of more than 90 rarer alleles. Molecular genetic testing is available on a clinical basis. Management. Treatment of manifestations: Most important is giving simple carbohydrates by mouth (e.g., glucose tablets, or sweetened, non-diet beverages) or IV if needed to reverse catabolism and sustain anabolism. Prevention of primary manifestations: The mainstay is avoidance of fasting: infants require frequent feedings; toddlers could be placed on a relatively low-fat diet (e.g., <30% of total energy from fat) and could receive 2 g/kg of uncooked cornstarch at bedtime to ensure sufficient glucose overnight. Prevention of secondary complications: Weight control measures including proper nutrition and exercise. Agents/circumstances to avoid: Hypoglycemia (e.g., from excessive fasting); infant formulas that contain medium-chain triglycerides as the primary source of fat. Evaluation of relatives at risk: Evaluate plasma acylcarnitine concentration and urine acylglycine in sibs and parents to permit early diagnosis and treatment of previously asymptomatic at-risk family members.

Genetic Counseling

Disease characteristics. Medium-chain acyl-coenzyme A dehydrogenase (MCAD) is one of the enzymes involved in mitochondrial fatty acid -oxidation, which fuels hepatic ketogenesis, a major source of energy once hepatic glycogen stores become depleted during prolonged fasting and periods of higher energy demands. In a typical clinical scenario, a previously healthy child with MCAD deficiency presents with hypoketotic hypoglycemia, vomiting, and lethargy triggered by a common illness. Seizures may occur. Hepatomegaly and liver disease are often present during an acute episode, which can quickly progress to coma and death. Children are normal at birth and if not identified through newborn screening typically present between ages three and 24 months; later presentation, even into adulthood, is possible. The prognosis is excellent once the diagnosis is established and frequent feedings are instituted to avoid any prolonged period of fasting. Diagnosis/testing. Diagnosis requires the integrated interpretation of multiple analyses, including consideration of the clinical status of the affected individual (i.e., acutely symptomatic vs asymptomatic) at the time of sample collection. Initial testing should include the following analyses and their proper interpretation: Plasma acylcarnitines . Urine organic acids. Urine acylglycines . The biochemical diagnosis of MCAD deficiency can be confirmed by: Determination of fatty acid -oxidation in fibroblasts; Measurement of MCAD enzyme activity in fibroblasts or other tissues; and/or . Molecular genetic testing of ACADM. The latter two tests can be used for prenatal diagnosis. Based on newborn screening results, approximately 50% of individuals are homozygous for the common mutation Lys304Glu, and approximately 40% are heterozygous for Lys304Glu and one of more than 90 rarer alleles. Molecular genetic testing is available on a clinical basis. Management. Treatment of manifestations: Most important is giving simple carbohydrates by mouth (e.g., glucose tablets, or sweetened, non-diet beverages) or IV if needed to reverse catabolism and sustain anabolism. Prevention of primary manifestations: The mainstay is avoidance of fasting: infants require frequent feedings; toddlers could be placed on a relatively low-fat diet (e.g., <30% of total energy from fat) and could receive 2 g/kg of uncooked cornstarch at bedtime to ensure sufficient glucose overnight. Prevention of secondary complications: Weight control measures including proper nutrition and exercise. Agents/circumstances to avoid: Hypoglycemia (e.g., from excessive fasting); infant formulas that contain medium-chain triglycerides as the primary source of fat. Evaluation of relatives at risk: Evaluate plasma acylcarnitine concentration and urine acylglycine in sibs and parents to permit early diagnosis and treatment of previously asymptomatic at-risk family members.

References

PMID: 20301597

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Interactions

Products	Interactant	Other Gene	Source	Pubs	Description
P11310	P11310	ACADM	HPRD	PubMed
P11310	Q6EEV6	SUMO4	HPRD	PubMed
BioGRID:106552	BioGRID:107252	CALM1	BioGRID	PubMed	Reconstituted Complex
BioGRID:106552	BioGRID:132223	SUMO4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106552	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106552	BioGRID:116077	USP20	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106552	BioGRID:131884	USP50	BioGRID	PubMed	Affinity Capture-MS

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General gene information

Markers

RH17668 (e-PCR)
- UniSTS:82433

MARC_2710-2711:991933212:3 (e-PCR)
- UniSTS:230938

ACADM (e-PCR)
- UniSTS:503882

PMC162151P1 (e-PCR)
- UniSTS:271453

PMC162151P4 (e-PCR)
- UniSTS:271456

D1S2386 (e-PCR)
- UniSTS:41314

ACADM__2214 (e-PCR)
- UniSTS:280429

GDB:375715 (e-PCR)
- UniSTS:157044

SHGC-132084 (e-PCR)
- UniSTS:170635

D17S2133 (e-PCR)
- UniSTS:56016

GDB:631816 (e-PCR)
- UniSTS:158431

GDB:631822 (e-PCR)
- UniSTS:158432

GDB:631826 (e-PCR)
- UniSTS:158433

GDB:631830 (e-PCR)
- UniSTS:158434

Genotypes

See ACADM SNP Geneview Report
See ACADM SNP Genotype Report
See ACADM SNP Variation Viewer Report

Potential readthrough

Included gene: RABGGTB

Homology

Homologs of the ACADM gene: The ACADM gene is conserved in chimpanzee, , dog, cow, mouse, rat, zebrafish, fruit fly, mosquito, and C.elegans.
Map Viewer (Mouse, Rat)

Pathways from BioSystems

Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA, organism-specific biosystem (from REACTOME)
Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA, organism-specific biosystemThe fourth pass through the beta-oxidation spiral picks up where the last left off with the saturated fatty acid decanoyl-CoA and produces octanoyl-CoA. Four enzymatic steps are required starting wit...
Beta oxidation of octanoyl-CoA to hexanoyl-CoA, organism-specific biosystem (from REACTOME)
Beta oxidation of octanoyl-CoA to hexanoyl-CoA, organism-specific biosystemThe fifth pass through the beta-oxidation spiral picks up where the last left off with the saturated fatty acid octanoyl-CoA and produces hexanoyl-CoA. Four enzymatic steps are required starting with...
FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem (from Pathway Interaction Database)
FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem
FOXA2 and FOXA3 transcription factor networks
Fatty Acid Beta Oxidation, organism-specific biosystem (from WikiPathways)
Fatty Acid Beta Oxidation, organism-specific biosystemComplete fatty acid beta-oxidation pathway for saturated and unsaturated fatty acids, developed and curated internally by BiGCaT Bioinformatics. This pathway was previously split into three parts p...
Fatty acid metabolism, organism-specific biosystem (from KEGG)
Fatty acid metabolism, organism-specific biosystem
Fatty acid metabolism
Fatty acid metabolism, conserved biosystem (from KEGG)
Fatty acid metabolism, conserved biosystem
Fatty acid metabolism
Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystemThe reactions involved in the metabolism of fatty acids and of the triacylglycerols and ketone bodies derived from them form a closely interrelated, coordinately regulated module that plays a central...
Leucine degradation, leucine => acetoacetate + acetyl-CoA, organism-specific biosystem (from KEGG)
Leucine degradation, leucine => acetoacetate + acetyl-CoA, organism-specific biosystemPathway module; Nucleotide and amino acid metabolism; Branched-chain amino acid metabolism
Leucine degradation, leucine => acetoacetate + acetyl-CoA, conserved biosystem (from KEGG)
Leucine degradation, leucine => acetoacetate + acetyl-CoA, conserved biosystemPathway module; Nucleotide and amino acid metabolism; Branched-chain amino acid metabolism
Malonate semialdehyde pathway, propanoyl-CoA => Acetyl-CoA, organism-specific biosystem (from KEGG)
Malonate semialdehyde pathway, propanoyl-CoA => Acetyl-CoA, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Other carbohydrate metabolism
Malonate semialdehyde pathway, propanoyl-CoA => Acetyl-CoA, conserved biosystem (from KEGG)
Malonate semialdehyde pathway, propanoyl-CoA => Acetyl-CoA, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Other carbohydrate metabolism
Metabolic pathways, organism-specific biosystem (from KEGG)
Metabolic pathways, organism-specific biosystem
Metabolic pathways
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
Mitochondrial Fatty Acid Beta-Oxidation, organism-specific biosystem (from REACTOME)
Mitochondrial Fatty Acid Beta-Oxidation, organism-specific biosystemBeta-oxidation begins once fatty acids have been imported into the mitochondrial matrix by carnitine acyltransferases. The beta-oxidation spiral of fatty acids metabolism involves the repetitive remo...
Mitochondrial LC-Fatty Acid Beta-Oxidation, organism-specific biosystem (from WikiPathways)
Mitochondrial LC-Fatty Acid Beta-Oxidation, organism-specific biosystem
Mitochondrial LC-Fatty Acid Beta-Oxidation
PPAR signaling pathway, organism-specific biosystem (from KEGG)
PPAR signaling pathway, organism-specific biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
PPAR signaling pathway, conserved biosystem (from KEGG)
PPAR signaling pathway, conserved biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
PPARA Activates Gene Expression, organism-specific biosystem (from REACTOME)
PPARA Activates Gene Expression, organism-specific biosystemThe set of genes regulated by PPAR-alpha is not fully known in humans, however many examples have been found in mice. Genes directly activated by PPAR-alpha contain peroxisome proliferator receptor e...
Propanoate metabolism, organism-specific biosystem (from KEGG)
Propanoate metabolism, organism-specific biosystem
Propanoate metabolism
Propanoate metabolism, conserved biosystem (from KEGG)
Propanoate metabolism, conserved biosystem
Propanoate metabolism
Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystem (from REACTOME)
Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystemPeroxisome proliferator-activated receptor alpha (PPAR-alpha) is the major regulator of fatty acid oxidation in the liver. PPARalpha is also the target of fibrate drugs used to treat abnormal plasma ...
SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
Valine, leucine and isoleucine degradation, organism-specific biosystem (from KEGG)
Valine, leucine and isoleucine degradation, organism-specific biosystem
Valine, leucine and isoleucine degradation
Valine, leucine and isoleucine degradation, conserved biosystem (from KEGG)
Valine, leucine and isoleucine degradation, conserved biosystem
Valine, leucine and isoleucine degradation
beta-Alanine metabolism, organism-specific biosystem (from KEGG)
beta-Alanine metabolism, organism-specific biosystem
beta-Alanine metabolism
beta-Alanine metabolism, conserved biosystem (from KEGG)
beta-Alanine metabolism, conserved biosystem
beta-Alanine metabolism
beta-Oxidation, organism-specific biosystem (from KEGG)
beta-Oxidation, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Fatty acid metabolism
beta-Oxidation, conserved biosystem (from KEGG)
beta-Oxidation, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Fatty acid metabolism
fatty acid beta-oxidation I, organism-specific biosystem (from BIOCYC)
fatty acid beta-oxidation I, organism-specific biosystemAerobic pathway Although enzymes of the pathway handle both short and long chain fatty acids, it is the long chain compounds that induce the enzymes of the pathway. Each turn of the cycle removes t...
mitochondrial fatty acid beta-oxidation of saturated fatty acids, organism-specific biosystem (from REACTOME)
mitochondrial fatty acid beta-oxidation of saturated fatty acids, organism-specific biosystemOnce fatty acids have been imported into the mitochondrial matrix by the carnitine acyltransferases, the beta-oxidation spiral begins. Each turn of this spiral concludes with the repetitive removal o...
mitochondrial fatty acid beta-oxidation of unsaturated fatty acids, organism-specific biosystem (from REACTOME)
mitochondrial fatty acid beta-oxidation of unsaturated fatty acids, organism-specific biosystemThe complete beta-oxidation spiral produces and consumes intermediates with a trans configuration. Mitochondrial beta-oxidation of unsaturated fatty acids leads to intermediates not compatible with t...

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
acryloyl-CoA reductase activity	IEA Inferred from Electronic Annotation more info
acyl-CoA dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed
acyl-CoA dehydrogenase activity	IEA Inferred from Electronic Annotation more info
acyl-CoA dehydrogenase activity	IMP Inferred from Mutant Phenotype more info	PubMed
acyl-CoA dehydrogenase activity	TAS Traceable Author Statement more info
flavin adenine dinucleotide binding	IEA Inferred from Electronic Annotation more info
identical protein binding	IDA Inferred from Direct Assay more info	PubMed
medium-chain-acyl-CoA dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
carnitine biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
carnitine metabolic process, CoA-linked	IMP Inferred from Mutant Phenotype more info	PubMed
cellular lipid metabolic process	TAS Traceable Author Statement more info
fatty acid beta-oxidation	IMP Inferred from Mutant Phenotype more info	PubMed
fatty acid beta-oxidation	TAS Traceable Author Statement more info
fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA Inferred from Direct Assay more info	PubMed
fatty acid beta-oxidation using acyl-CoA dehydrogenase	IMP Inferred from Mutant Phenotype more info	PubMed
medium-chain fatty acid catabolic process	IDA Inferred from Direct Assay more info	PubMed
medium-chain fatty acid metabolic process	IDA Inferred from Direct Assay more info	PubMed
oxidation-reduction process	IDA Inferred from Direct Assay more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
axon	IDA Inferred from Direct Assay more info
mitochondrial matrix	TAS Traceable Author Statement more info
mitochondrion	IDA Inferred from Direct Assay more info	PubMed

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General protein information

Preferred Names: medium-chain specific acyl-CoA dehydrogenase, mitochondrial

Names: medium-chain specific acyl-CoA dehydrogenase, mitochondrial; acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain

NP_000007.1

EC 1.3.99.3

NP_001120800.1

EC 1.3.99.3

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007045.1 RefSeqGene

Range

5001..44313

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000016.4 → NP_000007.1 medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform a precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform a.

Source sequence(s)

BC005377, BI789086, DB453314, DB537134

Consensus CDS

CCDS668.1

UniProtKB/Swiss-Prot

P11310

Related

ENSP00000359878, OTTHUMP00000011345, ENST00000370841, OTTHUMT00000026967

Conserved Domains (2) summary

COG1960
Location:39 – 420
Blast Score: 828

CaiA; Acyl-CoA dehydrogenases [Lipid metabolism]

cd01157
Location:41 – 418
Blast Score: 2012

MCAD; Medium chain acyl-CoA dehydrogenase
NM_001127328.1 → NP_001120800.1 medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform b precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is longer than isoform a.

Source sequence(s)

AF251043, BC005377, BI789086, DB453314, DB537134

Consensus CDS

CCDS44165.1

UniProtKB/Swiss-Prot

P11310

Related

ENSP00000409612, OTTHUMP00000232508, ENST00000420607, OTTHUMT00000388952

Conserved Domains (2) summary

COG1960
Location:43 – 424
Blast Score: 833

CaiA; Acyl-CoA dehydrogenases [Lipid metabolism]

cd01157
Location:45 – 422
Blast Score: 2016

MCAD; Medium chain acyl-CoA dehydrogenase

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

76190043..76229355

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

74319974..74359196

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NR_022013.1: Suppressed sequence

Description

NR_022013.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL357314.11	CAI22389.1
		CAI22390.1
genomic	CH471059.2	EAX06399.1
		EAX06400.1
		EAX06401.1
genomic	M60505.1	AAB59625.1
genomic	M91432.1	AAA59567.1
genomic	U33947.1	None
mRNA	AF251043.1	AAF63626.1
mRNA	AK296045.1	BAG58809.1
mRNA	AK301005.1	BAG62623.1
mRNA	AK301039.1	BAG62652.1
mRNA	AK301717.1	BAG63188.1
mRNA	AK309843.1	None
mRNA	AK311022.1	None
mRNA	AK311185.1	None
mRNA	AK312629.1	BAG35514.1
mRNA	AK315946.1	BAH14317.1
mRNA	BC005377.1	AAH05377.1
mRNA	BI789086.1	None
mRNA	BX647734.1	CAI45986.1
mRNA	DB453314.1	None
mRNA	DB537134.1	None
mRNA	M16827.1	AAA51566.1
other-genetic	DQ892341.2	ABM83267.1
other-genetic	DQ895710.2	ABM86636.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P11310.1	GenPept	UniProtKB/Swiss-Prot:P11310
Q5HYG7	GenPept	UniProtKB/TrEMBL:Q5HYG7
Q5T4U5	GenPept	UniProtKB/TrEMBL:Q5T4U5