Gene Gene information from NCBI Gene database.
Entrez ID 27034
Gene name Acyl-CoA dehydrogenase family member 8
Gene symbol ACAD8
Synonyms (NCBI Gene)
ACAD-8ARC42IBDH
Chromosome 11
Chromosome location 11q25
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 functio
SNPs SNP information provided by dbSNP.
17
SNP ID Visualize variation Clinical significance Consequence
rs113488591 C>G Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs121908418 T>C Pathogenic Coding sequence variant, missense variant
rs121908419 G>A Likely-pathogenic, pathogenic Coding sequence variant, missense variant, 3 prime UTR variant
rs121908420 C>T Likely-pathogenic, uncertain-significance Coding sequence variant, missense variant, 3 prime UTR variant
rs121908421 C>A,T Pathogenic Coding sequence variant, synonymous variant, missense variant, 3 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
133
miRTarBase ID miRNA Experiments Reference
MIRT052639 hsa-let-7a-5p CLASH 23622248
MIRT685425 hsa-miR-548c-3p HITS-CLIP 23313552
MIRT685424 hsa-miR-548n HITS-CLIP 23313552
MIRT685423 hsa-miR-6732-3p HITS-CLIP 23313552
MIRT685422 hsa-miR-562 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0003853 Function Short-chain 2-methyl fatty acyl-CoA dehydrogenase activity IEA
GO:0003995 Function Acyl-CoA dehydrogenase activity IEA
GO:0003995 Function Acyl-CoA dehydrogenase activity TAS 10524212
GO:0005515 Function Protein binding IPI 33961781
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604773 87 ENSG00000151498
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UKU7
Protein name Isobutyryl-CoA dehydrogenase, mitochondrial (IBDH) (EC 1.3.8.5) (Activator-recruited cofactor 42 kDa component) (ARC42) (Acyl-CoA dehydrogenase family member 8) (ACAD-8)
Protein function Isobutyryl-CoA dehydrogenase which catalyzes the conversion of 2-methylpropanoyl-CoA to (2E)-2-methylpropenoyl-CoA in the valine catabolic pathway (PubMed:11013134, PubMed:12359132, PubMed:16857760). To a lesser extent, also able to catalyze the
PDB 1RX0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02771 Acyl-CoA_dh_N 42 153 Acyl-CoA dehydrogenase, N-terminal domain Domain
PF02770 Acyl-CoA_dh_M 157 251 Acyl-CoA dehydrogenase, middle domain Domain
PF00441 Acyl-CoA_dh_1 263 413 Acyl-CoA dehydrogenase, C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected at comparable levels in heart, lung, brain, skeletal muscle, pancreas and placenta. Weakly expressed in liver and kidney. {ECO:0000269|PubMed:10524212}.
Sequence
Sequence length 415
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Valine, leucine and isoleucine degradation
Metabolic pathways
  Branched-chain amino acid catabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ACAD8-related disorder Pathogenic; Likely pathogenic rs572619478, rs934865815 RCV004749810
RCV003399635
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deficiency of isobutyryl-CoA dehydrogenase Likely pathogenic; Pathogenic rs374317179, rs572619478, rs773472208, rs770663870, rs1207482914, rs121908419, rs121908421, rs751940610, rs369445365, rs1339547372, rs759600553, rs757899755, rs779385985, rs763520594, rs537831211
View all (6 more)
RCV001040333
RCV001381283
RCV002037738
RCV002000040
RCV002040147
View all (17 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Uncertain significance; Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 3-hydroxy-3-methylglutaryl-CoA synthase deficiency BEFREE 25111118
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 28174420, 29498404
★☆☆☆☆
Found in Text Mining only
alpha 1-Antitrypsin Deficiency Alpha 1-Antitrypsin Deficiency BEFREE 9489912
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 17387528 Associate
★☆☆☆☆
Found in Text Mining only
Anal canal squamous cell carcinoma Anal Canal carcinoma BEFREE 28379306
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 27885843, 28575481, 29358946, 29955835, 30544202, 31665264
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Angioimmunoblastic Lymphadenopathy Angioimmunoblastic T-cell lymphoma BEFREE 29470284
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 29637483
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 28867427, 29048552, 30635487, 30722006
★☆☆☆☆
Found in Text Mining only