DISEASES

Disease-gene associations mined from literature

Literature associating ACSS1 and Canavan disease

ACSS1 [ENSP00000316924]

Acetyl-coenzyme A synthetase 2-like, mitochondrial; Catalyzes the synthesis of acetyl-CoA from short-chain fatty acids . Acetate is the preferred substrate . Can also utilize propionate with a much lower affinity (By similarity). Provides acetyl-CoA that is utilized mainly for oxidation under ketogenic conditions (By similarity). Involved in thermogenesis under ketogenic conditions, using acetate as a vital fuel when carbohydrate availability is insufficient (By similarity).

Synonyms:  ACSS1,  ACSS1p,  hACSS1,  Q5TF43,  Q9NUB1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM