ACAD8

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]

Description

Acyl-CoA dehydrogenase family member 8

Tissue specificity

Low tissue specificity

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

11 (134253548 - 134265855)

Ensembl ID

ENSG00000151498  (ver. 103.38)

Orthologs

Mouse Acad8: ENSMUSG00000031969

UniProt

Q9UKU7

neXtProt

NX_Q9UKU7

Human splice variants
Mouse splice variants

Protein structure