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ACADVL acyl-CoA dehydrogenase very long chain [ Homo sapiens (human) ]

Gene ID: 37, updated on 13-Dec-2020

Summary

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Official Symbol
ACADVLprovided by HGNC
Official Full Name
acyl-CoA dehydrogenase very long chainprovided by HGNC
Primary source
HGNC:HGNC:92
See related
Ensembl:ENSG00000072778 MIM:609575
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
ACAD6; LCACD; VLCAD
Summary
The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in adrenal (RPKM 228.7), duodenum (RPKM 185.5) and 25 other tissues See more
Orthologs
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Genomic context

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See ACADVL in Genome Data Viewer
Location:
17p13.1
Exon count:
22
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (7217125..7225266)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7120444..7128586)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7a pseudogene 64 Neighboring gene asialoglycoprotein receptor 1 Neighboring gene discs large MAGUK scaffold protein 4 Neighboring gene microRNA 324 Neighboring gene dishevelled segment polarity protein 2 Neighboring gene PHD finger protein 23

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
  • 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. One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency. Li X, et al. Clin Chim Acta, 2020 Apr. PMID 31794763
  2. [Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency]. Tong F, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2019 Apr 10. PMID 30950014
  3. Next-generation sequencing identifies a homozygous mutation in ACADVL associated with pediatric familial dilated cardiomyopathy. Carlus SJ, et al. Eur Rev Med Pharmacol Sci, 2019 Feb. PMID 30840296
  4. The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD). Hesse J, et al. J Inherit Metab Dis, 2018 Nov. PMID 30194637
  5. VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria. Evans M, et al. Mol Genet Metab, 2016 Aug. PMID 27246109

See all (96) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
    Title: One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
  2. homozygous mutation in ACADVL associated with pediatric familial dilated cardiomyopathy
    Title: Next-generation sequencing identifies a homozygous mutation in ACADVL associated with pediatric familial dilated cardiomyopathy.
  3. Sequencing of the ACADVL gene revealed that all individuals with activities below 24% were true Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) patients, individuals with residual activities between 24 and 27% carried either one or two mutations. Twenty new mutations could be identified and functionally classified based on their effect on enzyme function.
    Title: The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).
  4. The authors provide novel insights into the cellular energy household of cells from HADHA/ACADVL patients and demonstrate for the first time a connection between fatty acid metabolism, mitochondrial morphology and reactive oxygen species in patients with these rare genetic disorders.
    Title: Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery.
  5. VLCADD is relatively rare in southern China, for which late-onset form is common
    Title: [Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency].
  6. There are currently no biochemical markers for prediction of disease severity and for the need for treatment in VLCAD deficiency. Mutation analysis may offer predictive value but this may not be robust enough for a large proportion of those mutations that have not been previously reported in clinically affected patients.
    Title: VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.
  7. We retrospectively analyzed early outcomes for individuals who were diagnosed with VLCAD deficiency by NBS and describe initial presentations, diagnosis, clinical outcomes and treatment in a cohort of 52 individuals ages 1-18year.
    Title: Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
  8. LCHAD and MCAD are differentially expressed in maternal and fetal tissues during normal late pregnancy, which may represent a metabolic adaptation in response to physiological maternal dyslipidemia during late pregnancy.
    Title: Tissue specific expression of human fatty acid oxidation enzyme genes in late pregnancy.
  9. following variants should be considered likely pathogenic c.1273G > A (p.A425T), c.1001T > G (p.M334R), c.538G > A (p.A180T), c.640T > G (p.F214V), c.1076C > T (p.A359V), c.1019G > T (p.G340V), c.889_891delGAG (p.E297del), and c.1103A > C (p.Q368P); patients homozygous for the most common pathogenic variant, c.848T > C (p.V283A) can be expected to have a more benign clinical course
    Title: Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
  10. 11 mutations in ACADVL gene in 7 patients, 7 reported (p.S22X, p.W427X, p.A213T, p.G222R, p.R450H, c.296-297delCA, c.1605+1G>T), 4 novel (p.S72F, p.Q100X, p.M437T, p.D466Y). p.R450H and p.D466Y (14.28%, 2/14 alleles) mutations identified in 2 alleles.
    Title: Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.
Submit: New GeneRIF Correction See all GeneRIFs (27)

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

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acyl-CoA dehydrogenase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
fatty-acyl-CoA binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
flavin adenine dinucleotide binding IDA
Inferred from Direct Assay
more info
 PubMed 
identical protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
long-chain-acyl-CoA dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
very-long-chain-acyl-CoA dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
very-long-chain-acyl-CoA dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
IRE1-mediated unfolded protein response TAS
Traceable Author Statement
more info
  
energy derivation by oxidation of organic compounds TAS
Traceable Author Statement
more info
 PubMed 
epithelial cell differentiation IEP
Inferred from Expression Pattern
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 
fatty acid beta-oxidation using acyl-CoA dehydrogenase ISS
Inferred from Sequence or Structural Similarity
more info
  
negative regulation of fatty acid biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
negative regulation of fatty acid oxidation ISS
Inferred from Sequence or Structural Similarity
more info
  
regulation of cholesterol metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
response to cold IEA
Inferred from Electronic Annotation
more info
  
temperature homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
extrinsic component of mitochondrial inner membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
  
mitochondrial membrane IDA
Inferred from Direct Assay
more info
 PubMed 
mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
 PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
  
nucleolus IDA
Inferred from Direct Assay
more info
  
nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
very long-chain specific acyl-CoA dehydrogenase, mitochondrial
Names
acyl-Coenzyme A dehydrogenase, very long chain
NP_000009.1
NP_001029031.1
NP_001257376.1
NP_001257377.1
XP_006721579.2
XP_011522131.1
XP_011522132.1
XP_024306509.1

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_007975.1 RefSeqGene

    Range
    5105..10433
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000018.4 → NP_000009.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_000009.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1.
    Source sequence(s)
    BC000399
    Consensus CDS
    CCDS11090.1
    UniProtKB/Swiss-Prot
    P49748
    Related
    ENSP00000349297.5, ENST00000356839.10
    Conserved Domains (1) summary
    cd01161
    Location:72 → 481
    VLCAD; Very long chain acyl-CoA dehydrogenase

  2. NM_001033859.3 → NP_001029031.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_001029031.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting (isoform 2) is shorter, compared to isoform 1.
    Source sequence(s)
    BC020218, BP387474
    Consensus CDS
    CCDS42249.1
    UniProtKB/Swiss-Prot
    P49748
    Related
    ENSP00000344152.5, ENST00000350303.9
    Conserved Domains (2) summary
    cd01161
    Location:50 → 459
    VLCAD; Very long chain acyl-CoA dehydrogenase
    COG1960
    Location:80 → 451
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

  3. NM_001270447.2 → NP_001257376.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (3) is longer and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC120057, AK293549, BC000399, BP387474
    Consensus CDS
    CCDS58509.1
    UniProtKB/Swiss-Prot
    P49748
    Related
    ENSP00000438689.2, ENST00000543245.6
    Conserved Domains (2) summary
    cd01161
    Location:95 → 504
    VLCAD; Very long chain acyl-CoA dehydrogenase
    COG1960
    Location:125 → 496
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

  4. NM_001270448.2 → NP_001257377.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 4

    See identical proteins and their annotated locations for NP_001257377.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has an additional segment in the 5' exon, compared to variant 1. The 5'-most supported initiation codon, as used in variant 1, is associated with a weak Kozak sequence and a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream AUG, and result in an isoform (4), which is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AK056083, BP387474
    UniProtKB/TrEMBL
    B3KPA6
    Conserved Domains (2) summary
    cd01161
    Location:1 → 405
    VLCAD; Very long chain acyl-CoA dehydrogenase
    COG1960
    Location:26 → 397
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    7217125..7225266
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721516.3 → XP_006721579.2  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X1

    Conserved Domains (2) summary
    cd01161
    Location:72 → 481
    VLCAD; Very long chain acyl-CoA dehydrogenase
    COG1960
    Location:102 → 473
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

  2. XM_024450741.1 → XP_024306509.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X2

    Conserved Domains (1) summary
    cd01161
    Location:72 → 478
    VLCAD; Very long chain acyl-CoA dehydrogenase

  3. XM_011523830.2 → XP_011522132.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X4

    Conserved Domains (2) summary
    cd01161
    Location:72 → 478
    VLCAD; Very long chain acyl-CoA dehydrogenase
    COG1960
    Location:102 → 473
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

  4. XM_011523829.2 → XP_011522131.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X3

    Conserved Domains (2) summary
    cd01161
    Location:72 → 478
    VLCAD; Very long chain acyl-CoA dehydrogenase
    COG1960
    Location:102 → 473
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

RNA

  1. XR_934021.2 RNA Sequence

    Related
    ENST00000322910.9

  2. XR_934022.2 RNA Sequence

  3. XR_934023.2 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P49748.1 GenPept UniProtKB/Swiss-Prot:P49748

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