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Aliases for ACAD8 Gene

Aliases for ACAD8 Gene

  • Acyl-CoA Dehydrogenase Family Member 8 2 3 4 5
  • Acyl-Coenzyme A Dehydrogenase Family, Member 8 2 3
  • Activator-Recruited Cofactor 42 KDa Component 3 4
  • ACAD-8 3 4
  • ARC42 3 4
  • Isobutyryl-CoA Dehydrogenase, Mitochondrial 3
  • Acyl-CoA Dehydrogenase Family, Member 8 2
  • EC 1.3.99.- 4
  • EC 1.3.99 58
  • IBD 4

External Ids for ACAD8 Gene

Previous GeneCards Identifiers for ACAD8 Gene

  • GC11P136620
  • GC11P135638
  • GC11P134156
  • GC11P133661
  • GC11P133628
  • GC11P134123
  • GC11P130078

Summaries for ACAD8 Gene

Entrez Gene Summary for ACAD8 Gene

  • 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]

GeneCards Summary for ACAD8 Gene

ACAD8 (Acyl-CoA Dehydrogenase Family Member 8) is a Protein Coding gene. Diseases associated with ACAD8 include Isobutyryl-Coa Dehydrogenase Deficiency and 2-Methylbutyrylglycinuria. Among its related pathways are Metabolism and Valine, leucine and isoleucine degradation. GO annotations related to this gene include flavin adenine dinucleotide binding and acyl-CoA dehydrogenase activity. An important paralog of this gene is ACADS.

UniProtKB/Swiss-Prot for ACAD8 Gene

  • Has very high activity toward isobutyryl-CoA. Is an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Plays a role in transcriptional coactivation within the ARC complex.

Gene Wiki entry for ACAD8 Gene

Additional gene information for ACAD8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACAD8 Gene

Genomics for ACAD8 Gene

Regulatory Elements for ACAD8 Gene

Enhancers for ACAD8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H134252 1.1 ENCODE 20.1 -0.1 -97 2.1 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF207 ZNF143 ACAD8 THYN1 GLB1L3 PIR51401
GH11H134271 1.2 ENCODE dbSUPER 18.3 +19.4 19394 2.5 FOXA2 ATF1 MLX ARID4B DMAP1 YY1 ZNF121 ATF7 MXD4 REST ACAD8 GLB1L3 GC11P134265
GH11H134266 1 Ensembl ENCODE dbSUPER 19 +13.6 13560 1.8 MAX WT1 ZNF18 ACAD8 NCAPD3 VPS26B GC11P134265 GLB1L3
GH11H134275 1.4 Ensembl ENCODE dbSUPER 10.3 +23.2 23245 2.8 KLF17 BMI1 FEZF1 ZNF2 GLIS2 RUNX3 CREM JUNB REST ZEB2 GLB1L3 ACAD8 GC11P134288
GH11H134222 1.1 ENCODE 12 -29.0 -29011 3 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 ACAD8 JAM3 NCAPD3 GLB1L3 VPS26B GC11P134223
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACAD8 on UCSC Golden Path with GeneCards custom track

Promoters for ACAD8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000047446 5 2201 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF207 ZNF143 SP3

Genomic Locations for ACAD8 Gene

Genomic Locations for ACAD8 Gene
12,450 bases
Plus strand

Genomic View for ACAD8 Gene

Genes around ACAD8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACAD8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACAD8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACAD8 Gene

Proteins for ACAD8 Gene

  • Protein details for ACAD8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Isobutyryl-CoA dehydrogenase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B7Z5W4
    • Q6ZWP6
    • Q9BUS8

    Protein attributes for ACAD8 Gene

    415 amino acids
    Molecular mass:
    45070 Da
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homotetramer, formed by a dimer of dimers. Subunit of the large multiprotein complex ARC/DRIP.

    Three dimensional structures from OCA and Proteopedia for ACAD8 Gene

    Alternative splice isoforms for ACAD8 Gene


neXtProt entry for ACAD8 Gene

Selected DME Specific Peptides for ACAD8 Gene


Post-translational modifications for ACAD8 Gene

  • Ubiquitination at posLast=8080
  • Modification sites at PhosphoSitePlus

Domains & Families for ACAD8 Gene

Gene Families for ACAD8 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the acyl-CoA dehydrogenase family.
  • Belongs to the acyl-CoA dehydrogenase family.
genes like me logo Genes that share domains with ACAD8: view

Function for ACAD8 Gene

Molecular function for ACAD8 Gene

GENATLAS Biochemistry:
acyl-CoA dehydrogenase family,member 8
UniProtKB/Swiss-Prot CatalyticActivity:
Isobutyryl-CoA + ETF = methylacrylyl-CoA + reduced ETF.
UniProtKB/Swiss-Prot Function:
Has very high activity toward isobutyryl-CoA. Is an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Plays a role in transcriptional coactivation within the ARC complex.

Enzyme Numbers (IUBMB) for ACAD8 Gene

Phenotypes From GWAS Catalog for ACAD8 Gene

Gene Ontology (GO) - Molecular Function for ACAD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003995 acyl-CoA dehydrogenase activity EXP 12359132
GO:0016491 oxidoreductase activity IEA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA --
GO:0050660 flavin adenine dinucleotide binding IEA --
genes like me logo Genes that share ontologies with ACAD8: view
genes like me logo Genes that share phenotypes with ACAD8: view

Human Phenotype Ontology for ACAD8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ACAD8 Gene

Localization for ACAD8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACAD8 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACAD8 gene
Compartment Confidence
mitochondrion 5
cytosol 2

Gene Ontology (GO) - Cellular Components for ACAD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ACAD8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACAD8 Gene

Pathways & Interactions for ACAD8 Gene

genes like me logo Genes that share pathways with ACAD8: view

Pathways by source for ACAD8 Gene

UniProtKB/Swiss-Prot Q9UKU7-ACAD8_HUMAN

  • Pathway: Amino-acid degradation; L-valine degradation.

Gene Ontology (GO) - Biological Process for ACAD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006574 valine catabolic process IEA --
GO:0006629 lipid metabolic process TAS,IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ACAD8: view

No data available for SIGNOR curated interactions for ACAD8 Gene

Drugs & Compounds for ACAD8 Gene

(7) Drugs for ACAD8 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma Target 0
Methacrylyl-CoA Experimental Pharma Target 0
Hexanoyl-CoA Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0

(37) Additional Compounds for ACAD8 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (S)-2-methylbutyryl-CoA
  • (S)-2-methylbutyryl-Coenzyme A
  • 2-Methylbutanoyl-CoA
  • 2-Methylbutanoyl-Coenzyme A
  • 2-Methylbutyryl-CoA
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
  • (E)-S-2-octenoate
  • (E)-S-2-octenoate CoA
  • (E)-S-2-octenoate Coenzyme A
  • (E)-S-2-octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
genes like me logo Genes that share compounds with ACAD8: view

Transcripts for ACAD8 Gene

Unigene Clusters for ACAD8 Gene

Acyl-CoA dehydrogenase family, member 8:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACAD8 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a ·
SP1: - - - - -
SP2: - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - -
SP5: - - -
SP6: - - - - -
SP7: - - - - - - - - - - - -
SP8: - - - - -
SP9: - - - - -
SP10: -
SP11: - - -
SP13: -

ExUns: 12b ^ 13 ^ 14a · 14b · 14c ^ 15
SP1: - - - -
SP3: - - - -
SP4: - - - -
SP5: -

Relevant External Links for ACAD8 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ACAD8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACAD8 Gene

Protein differential expression in normal tissues from HIPED for ACAD8 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.8) and Stomach (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ACAD8 Gene

Protein tissue co-expression partners for ACAD8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACAD8 Gene:


SOURCE GeneReport for Unigene cluster for ACAD8 Gene:


mRNA Expression by UniProt/SwissProt for ACAD8 Gene:

Tissue specificity: Detected at comparable levels in all tissues examined (heart, lung, brain, skeletal muscle, pancreas and placenta). Weakly expressed in liver and kidney.

Evidence on tissue expression from TISSUES for ACAD8 Gene

  • Nervous system(4.9)
  • Skin(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACAD8 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • cardiovascular
  • nervous
  • skeletal muscle
Head and neck:
  • ear
  • heart
  • heart valve
  • blood
  • red blood cell
genes like me logo Genes that share expression patterns with ACAD8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ACAD8 Gene

Orthologs for ACAD8 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACAD8 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ACAD8 33 34
  • 99.36 (n)
(Canis familiaris)
Mammalia ACAD8 33 34
  • 89.77 (n)
(Mus musculus)
Mammalia Acad8 33 16 34
  • 86.86 (n)
(Ornithorhynchus anatinus)
Mammalia ACAD8 34
  • 86 (a)
(Rattus norvegicus)
Mammalia Acad8 33
  • 84.78 (n)
(Bos Taurus)
Mammalia ACAD8 33 34
  • 82.65 (n)
(Monodelphis domestica)
Mammalia ACAD8 34
  • 82 (a)
(Gallus gallus)
Aves ACAD8 33 34
  • 79.16 (n)
(Anolis carolinensis)
Reptilia ACAD8 34
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia acad8 33
  • 72.87 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC64378 33
(Danio rerio)
Actinopterygii acad8 33 34
  • 74.16 (n)
zgc55874 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13488 33
(Caenorhabditis elegans)
Secernentea F28A10.6 35
  • 58 (a)
acdh-9 33 34
  • 58 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7484 34
  • 64 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14747 33
Species where no ortholog for ACAD8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACAD8 Gene

Gene Tree for ACAD8 (if available)
Gene Tree for ACAD8 (if available)

Paralogs for ACAD8 Gene

Paralogs for ACAD8 Gene

genes like me logo Genes that share paralogs with ACAD8: view

Variants for ACAD8 Gene

Sequence variations from dbSNP and Humsavar for ACAD8 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs121908418 Pathogenic, Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] 134,258,589(+) TACCA(C/T)GGAGA reference, missense
rs121908422 Pathogenic, Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] 134,261,338(+) TGTCC(A/G)GAAGC reference, missense, utr-variant-3-prime
rs200620279 Pathogenic, Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] 134,261,756(+) CACTG(A/G)CTGAT reference, missense, utr-variant-3-prime
rs367857040 Uncertain significance, Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] 134,258,534(+) TGATT(G/T)ATAGC reference, missense
rs367996531 Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] 134,262,581(+) TGTTC(A/G)GCAGT reference, missense, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ACAD8 Gene

Variant ID Type Subtype PubMed ID
nsv832299 CNV loss 17160897
nsv556598 CNV loss 21841781
nsv521581 CNV gain 19592680
nsv1037294 CNV loss 25217958
esv3892114 CNV gain 25118596
esv2745324 CNV deletion 23290073

Variation tolerance for ACAD8 Gene

Residual Variation Intolerance Score: 24.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.17; 39.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACAD8 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACAD8 Gene

Disorders for ACAD8 Gene

MalaCards: The human disease database

(8) MalaCards diseases for ACAD8 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
isobutyryl-coa dehydrogenase deficiency
  • acad8 deficiency
  • 2-methylbutyryl-coa dehydrogenase deficiency
acyl-coa dehydrogenase, short-chain, deficiency of
  • short chain acyl-coa dehydrogenase deficiency
alpha-methylacetoacetic aciduria
  • beta-ketothiolase deficiency
3-methylcrotonyl-coa carboxylase deficiency
  • 3-methylcrotonylglycinuria
- elite association - COSMIC cancer census association via MalaCards
Search ACAD8 in MalaCards View complete list of genes associated with diseases


  • Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]: The symptoms of IBDD generally appear until late in infancy or in childhood and can include poor feeding and growth (failure to thrive), a weakened and enlarged heart (dilated cardiomyopathy), seizures, and low numbers of red blood cells (anemia). {ECO:0000269 PubMed:12359132, ECO:0000269 PubMed:15505379, ECO:0000269 PubMed:16857760}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ACAD8

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ACAD8: view

No data available for Genatlas for ACAD8 Gene

Publications for ACAD8 Gene

  1. Structures of isobutyryl-CoA dehydrogenase and enzyme-product complex: comparison with isovaleryl- and short-chain acyl-CoA dehydrogenases. (PMID: 14752098) Battaile KP … Kim JJ (The Journal of biological chemistry 2004) 3 4 22 60
  2. Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. (PMID: 12359132) Nguyen TV … Vockley J (Molecular genetics and metabolism 2002) 3 4 22 60
  3. 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. (PMID: 11013134) Andresen BS … Skovby F (American journal of human genetics 2000) 3 4 22 60
  4. Isolation and characterisation of a cDNA encoding the precursor for a novel member of the acyl-CoA dehydrogenase gene family. (PMID: 10524212) Telford EA … Lench NJ (Biochimica et biophysica acta 1999) 2 3 4 60
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60

Products for ACAD8 Gene

Sources for ACAD8 Gene

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