ACAD8 (acyl-CoA dehydrogenase family member 8)

2014-11-01  

Identity

HGNC
LOCATION
11q25
LOCUSID
ALIAS
ACAD-8,ARC42,IBDH
FUSION GENES

Other Information

Locus ID:

NCBI: 27034
MIM: 604773
HGNC: 87
Ensembl: ENSG00000151498

Variants:

dbSNP: 27034
ClinVar: 27034
TCGA: ENSG00000151498
COSMIC: ACAD8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000151498ENST00000281182Q9UKU7
ENSG00000151498ENST00000374752Q9UKU7
ENSG00000151498ENST00000524426E9PLS3
ENSG00000151498ENST00000526026E9PKP9

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Valine, leucine and isoleucine degradationKEGGko00280
Valine, leucine and isoleucine degradationKEGGhsa00280
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Branched-chain amino acid catabolismREACTOMER-HSA-70895

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
123591322002Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
173875282007Association study of cholesterol-related genes in Alzheimer's disease.16
246359112015A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum.3

Citation

Dessen P

ACAD8 (acyl-CoA dehydrogenase family member 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60070/acad8