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ACADM acyl-CoA dehydrogenase medium chain [ Homo sapiens (human) ]

Gene ID: 34, updated on 3-Nov-2024

Summary

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Official Symbol
ACADMprovided by HGNC
Official Full Name
acyl-CoA dehydrogenase medium chainprovided by HGNC
Primary source
HGNC:HGNC:89
See related
Ensembl:ENSG00000117054 MIM:607008; AllianceGenome:HGNC:89
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
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]
Expression
Ubiquitous expression in kidney (RPKM 85.4), heart (RPKM 68.4) and 25 other tissues See more
Orthologs
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Genomic context

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See ACADM in Genome Data Viewer
Location:
1p31.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (75724709..75763679)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (75561369..75600339)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (76190394..76229364)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 44 member 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 995 Neighboring gene ribosomal protein L29 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1202 Neighboring gene diphosphoinositol pentakisphosphate kinase 2 pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:76143731-76144390 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:76185422-76186047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1203 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 997 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1206 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 998 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1207 Neighboring gene dihydrolipoamide S-succinyltransferase pseudogene 1 Neighboring gene small nucleolar RNA, C/D box 45C Neighboring gene small nucleolar RNA, C/D box 45A Neighboring gene Rab geranylgeranyltransferase subunit beta

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. Adam MP, et al. , 1993. PMID 20301597
  2. Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status. Korman SH, et al. Mol Genet Metab, 2004 Jun. PMID 15171999
  3. Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. Maier EM, et al. Hum Mutat, 2005 May. PMID 15832312
  4. Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening. Nennstiel-Ratzel U, et al. Mol Genet Metab, 2005 Jun. PMID 15896661
  5. Newborns with C8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation. Blois B, et al. J Inherit Metab Dis, 2005. PMID 15902558

See all (164) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Role of PPAR-related genes in chronic heart failure: evidence from large populations.
    Title: Role of PPAR-related genes in chronic heart failure: evidence from large populations.
  2. Functional and structural impact of 10 ACADM missense mutations on human medium chain acyl-Coa dehydrogenase.
    Title: Functional and structural impact of 10 ACADM missense mutations on human medium chain acyl-Coa dehydrogenase.
  3. [Analysis of clinical characteristics and ACADM gene variants in four children with Medium chain acyl-CoA dehydrogenase deficiency].
    Title: [Analysis of clinical characteristics and ACADM gene variants in four children with Medium chain acyl-CoA dehydrogenase deficiency].
  4. Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.
    Title: Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.
  5. Medium-Chain Acyl-CoA Dehydrogenase Protects Mitochondria from Lipid Peroxidation in Glioblastoma.
    Title: Medium-Chain Acyl-CoA Dehydrogenase Protects Mitochondria from Lipid Peroxidation in Glioblastoma.
  6. Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
    Title: Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
  7. Suppression of ACADM-Mediated Fatty Acid Oxidation Promotes Hepatocellular Carcinoma via Aberrant CAV1/SREBP1 Signaling.
    Title: Suppression of ACADM-Mediated Fatty Acid Oxidation Promotes Hepatocellular Carcinoma via Aberrant CAV1/SREBP1 Signaling.
  8. Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province.
    Title: Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province.
  9. In six unrelated Chinese patients with medium-chain acyl-coenzyme A dehydrogenase deficiency, six mutations were found in acyl-CoA dehydrogenase medium chain (ACADM). One mutation (c.727C>T) was novel and the others (c.158G>A, c.387+1delG, c.449_452del, c.1045C>T, and c.1085G>A) have been previously reported.
    Title: Medium-chain acyl-coenzyme A dehydrogenase deficiency: Six cases in the Chinese population.
  10. Our study has revealed the unique genetic backgrounds of MCAD deficiency among Japanese, based on the largest series of non-Caucasian cases.
    Title: Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
Submit: New GeneRIF Correction See all GeneRIFs (47)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide perspective of genetic variation in human metabolism.
EBI GWAS Catalog
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Human metabolic individuality in biomedical and pharmaceutical research.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ18227, FLJ93013, FLJ99884

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acyl-CoA dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables acyl-CoA dehydrogenase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables flavin adenine dinucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables medium-chain fatty acyl-CoA dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables medium-chain fatty acyl-CoA dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cardiac muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in carnitine biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in carnitine metabolic process, CoA-linked IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in fatty acid beta-oxidation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in glycogen biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in liver development IEA
Inferred from Electronic Annotation
more info
  
involved_in medium-chain fatty acid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in medium-chain fatty acid catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in medium-chain fatty acid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in post-embryonic development IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of gluconeogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in response to cold IEA
Inferred from Electronic Annotation
more info
  
involved_in response to starvation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in axon IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrial membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in nucleus HDA PubMed 

General protein information

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Preferred Names
medium-chain specific acyl-CoA dehydrogenase, mitochondrial
Names
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain
medium-chain acyl-CoA dehydrogenase
testicular tissue protein Li 7
NP_000007.1
NP_001120800.1
NP_001272971.1
NP_001272972.1
NP_001272973.1

NCBI Reference Sequences (RefSeq)

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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

  1. NG_007045.2 RefSeqGene

    Range
    4990..44322
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_838

mRNA and Protein(s)

  1. NM_000016.6 → NP_000007.1  medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform a precursor

    See identical proteins and their annotated locations for NP_000007.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform a.
    Source sequence(s)
    AL357314, BC005377
    Consensus CDS
    CCDS668.1
    UniProtKB/Swiss-Prot
    P11310, Q5T4U4, Q9NYF1
    UniProtKB/TrEMBL
    A0A0S2Z366, F6YB23
    Related
    ENSP00000359878.5, ENST00000370841.9
    Conserved Domains (1) summary
    cd01157
    Location:41 → 418
    MCAD; Medium chain acyl-CoA dehydrogenase

  2. NM_001127328.3 → NP_001120800.1  medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform b precursor

    See identical proteins and their annotated locations for NP_001120800.1

    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, AL357314
    Consensus CDS
    CCDS44165.1
    UniProtKB/TrEMBL
    F6YB23
    Related
    ENSP00000409612.2, ENST00000420607.6
    Conserved Domains (2) summary
    cd01157
    Location:45 → 422
    MCAD; Medium chain acyl-CoA dehydrogenase
    COG1960
    Location:43 → 424
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

  3. NM_001286042.2 → NP_001272971.1  medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform c

    See identical proteins and their annotated locations for NP_001272971.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks an exon in the 5' coding region. These difference cause translation initiation at an alternate start codon compared to variant 1. The encoded isoform (c) is shorter and has a distinct N-terminus compared to isoform (a).
    Source sequence(s)
    AK315946, AL357314
    UniProtKB/TrEMBL
    B4DWX6, B7Z9I1
    Related
    ENSP00000505130.1, ENST00000681790.1
    Conserved Domains (1) summary
    cd01157
    Location:5 → 382
    MCAD; Medium chain acyl-CoA dehydrogenase

  4. NM_001286043.2 → NP_001272972.1  medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform d precursor

    See identical proteins and their annotated locations for NP_001272972.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate in-frame exon in the central coding region compared to variant 1. The encoded isoform (d) is longer than isoform 1.
    Source sequence(s)
    AL357314, BX647734
    Consensus CDS
    CCDS72807.1
    UniProtKB/TrEMBL
    Q5HYG7, Q5T4U5
    Related
    ENSP00000359871.5, ENST00000370834.9
    Conserved Domains (2) summary
    cd01157
    Location:41 → 451
    MCAD; Medium chain acyl-CoA dehydrogenase
    COG1960
    Location:39 → 453
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

  5. NM_001286044.2 → NP_001272973.1  medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform e

    See identical proteins and their annotated locations for NP_001272973.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate 5' structure that results in the use downstream AUG compared to variant 1. The encoded isoform (e) has a shorter N-terminus compared to isoform a.
    Source sequence(s)
    AK296045, AL357314
    UniProtKB/TrEMBL
    A0A7P0TB55, B4DJE7
    Related
    ENSP00000506598.1, ENST00000679687.1
    Conserved Domains (2) summary
    COG1960
    Location:1 → 231
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
    cl09933
    Location:1 → 229
    ACAD; Acyl-CoA dehydrogenase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    75724709..75763679
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    75561369..75600339
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. 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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P11310.1 GenPept UniProtKB/Swiss-Prot:P11310

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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