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ACAD8 acyl-CoA dehydrogenase family member 8 [ Homo sapiens (human) ]

Gene ID: 27034, updated on 11-Apr-2024

Summary

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Official Symbol
ACAD8provided by HGNC
Official Full Name
acyl-CoA dehydrogenase family member 8provided by HGNC
Primary source
HGNC:HGNC:87
See related
Ensembl:ENSG00000151498 MIM:604773; AllianceGenome:HGNC:87
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
IBDH; ARC42; ACAD-8
Summary
This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009]
Expression
Ubiquitous expression in thyroid (RPKM 16.8), prostate (RPKM 12.2) and 25 other tissues See more
Orthologs
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Genomic context

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See ACAD8 in Genome Data Viewer
Location:
11q25
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (134253568..134265855)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (134295413..134307700)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (134123462..134135749)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene non-SMC condensin II complex subunit D3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5769 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5770 Neighboring gene VPS26 retromer complex component B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5771 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4096 Neighboring gene thymocyte nuclear protein 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:134142736-134143291 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5774 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4097 Neighboring gene galactosidase beta 1 like 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:134180995-134181180 Neighboring gene ATPase H+/K+ transporting subunit beta pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4098 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4099 Neighboring gene galactosidase beta 1 like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134228611-134229134

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. A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum. Yun JW, et al. Clin Genet, 2015 Feb. PMID 24635911
  2. Structures of isobutyryl-CoA dehydrogenase and enzyme-product complex: comparison with isovaleryl- and short-chain acyl-CoA dehydrogenases. Battaile KP, et al. J Biol Chem, 2004 Apr 16. PMID 14752098
  3. Isolation and characterisation of a cDNA encoding the precursor for a novel member of the acyl-CoA dehydrogenase gene family. Telford EA, et al. Biochim Biophys Acta, 1999 Sep 3. PMID 10524212
  4. Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. Nguyen TV, et al. Mol Genet Metab, 2002 Sep-Oct. PMID 12359132
  5. Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. Andresen BS, et al. Am J Hum Genet, 2000 Nov. PMID 11013134, Free PMC Article

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. we discovered a novel c.1156_1158delCAG mutation in ACAD8 in patients with isobutyryl-CoA dehydrogenase deficiency , and investigated the mutation spectrum of ACAD8.
    Title: A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  3. first enzymatic and molecular confirmation of a deficiency of this enzyme in a patient
    Title: Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.
Submit: New GeneRIF Correction

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

Associated conditions

Description Tests
Deficiency of isobutyryl-CoA dehydrogenase
MedGen: C1969809 OMIM: 611283 GeneReviews: Not available
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EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
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

  • FLJ22590

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 2-methylpropanoyl-CoA dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
  
enables acyl-CoA dehydrogenase activity TAS
Traceable Author Statement
more info
 PubMed 
enables flavin adenine dinucleotide binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in valine catabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
isobutyryl-CoA dehydrogenase, mitochondrial
Names
activator-recruited cofactor 42 kDa component
acyl-Coenzyme A dehydrogenase family, member 8
NP_055199.1
XP_005271562.1
XP_011541052.1
XP_047282724.1
XP_047282725.1
XP_047282726.1
XP_054224399.1
XP_054224400.1
XP_054224401.1
XP_054224402.1
XP_054224403.1

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_015842.1 RefSeqGene

    Range
    5001..17316
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_448

mRNA and Protein(s)

  1. NM_014384.3 → NP_055199.1  isobutyryl-CoA dehydrogenase, mitochondrial

    See identical proteins and their annotated locations for NP_055199.1

    Status: REVIEWED

    Source sequence(s)
    AK026243, AK074640, BC001964, BI549961
    Consensus CDS
    CCDS8498.1
    UniProtKB/Swiss-Prot
    B7Z5W4, Q6ZWP6, Q9BUS8, Q9UKU7
    Related
    ENSP00000281182.5, ENST00000281182.9
    Conserved Domains (1) summary
    cd01162
    Location:41 → 415
    IBD; Isobutyryl-CoA dehydrogenase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    134253568..134265855
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542750.4 → XP_011541052.1  isobutyryl-CoA dehydrogenase, mitochondrial isoform X1

    Conserved Domains (2) summary
    cd01162
    Location:41 → 398
    IBD; Isobutyryl-CoA dehydrogenase
    COG1960
    Location:39 → 398
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

  2. XM_047426768.1 → XP_047282724.1  isobutyryl-CoA dehydrogenase, mitochondrial isoform X2

  3. XM_005271505.5 → XP_005271562.1  isobutyryl-CoA dehydrogenase, mitochondrial isoform X5

    Conserved Domains (2) summary
    COG1960
    Location:39 → 236
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
    cl09933
    Location:41 → 236
    ACAD; Acyl-CoA dehydrogenase

  4. XM_047426770.1 → XP_047282726.1  isobutyryl-CoA dehydrogenase, mitochondrial isoform X4

  5. XM_047426769.1 → XP_047282725.1  isobutyryl-CoA dehydrogenase, mitochondrial isoform X3

RNA

  1. XR_007062474.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    134295413..134307700
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368424.1 → XP_054224399.1  isobutyryl-CoA dehydrogenase, mitochondrial isoform X1

  2. XM_054368425.1 → XP_054224400.1  isobutyryl-CoA dehydrogenase, mitochondrial isoform X2

  3. XM_054368428.1 → XP_054224403.1  isobutyryl-CoA dehydrogenase, mitochondrial isoform X5

  4. XM_054368427.1 → XP_054224402.1  isobutyryl-CoA dehydrogenase, mitochondrial isoform X4

  5. XM_054368426.1 → XP_054224401.1  isobutyryl-CoA dehydrogenase, mitochondrial isoform X3

RNA

  1. XR_008488382.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UKU7.1 GenPept UniProtKB/Swiss-Prot:Q9UKU7

Gene LinkOut

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