DISEASES

Disease-gene associations mined from literature

Literature associating THEM5 and chorea gravidarum

THEM5 [ENSP00000357807]

Acyl-coenzyme A thioesterase THEM5; Has acyl-CoA thioesterase activity towards long-chain (C16 and C18) fatty acyl-CoA substrates, with a preference for linoleoyl-CoA and other unsaturated long-chain fatty acid-CoA esters. Plays an important role in mitochondrial fatty acid metabolism, and in remodeling of the mitochondrial lipid cardiolipin. Required for normal mitochondrial function.

Synonyms:  THEM5,  THEM5p,  hTHEM5,  Q8N1Q8,  ACOT15 ...

Linkouts:  STRING  Pharos  UniProt  OMIM