DISEASES

Disease-gene associations mined from literature

Literature associating ACAD9 and fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency

ACAD9 [ENSP00000312618]

Acyl-CoA dehydrogenase family member 9, mitochondrial; Required for mitochondrial complex I assembly. Has a dehydrogenase activity on palmitoyl-CoA (C16:0) and stearoyl-CoA (C18:0). It is three times more active on palmitoyl-CoA than on stearoyl-CoA. However, it does not play a primary role in long-chain fatty acid oxidation in vivo. Has little activity on octanoyl-CoA (C8:0), butyryl-CoA (C4:0) or isovaleryl-CoA (5:0); Belongs to the acyl-CoA dehydrogenase family.

Synonyms:  ACAD9,  ACAD9p,  hACAD9,  D6R9Z3,  D6RCD8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM