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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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    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
    		Compare labs

    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

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