DISEASES

Disease-gene associations mined from literature

Literature associating ACSS1 and Canavan disease

ACSS1 [ENSP00000316924]

Acetyl-coenzyme A synthetase 2-like, mitochondrial; Important for maintaining normal body temperature during fasting and for energy homeostasis. Essential for energy expenditure under ketogenic conditions (By similarity). Converts acetate to acetyl-CoA so that it can be used for oxidation through the tricarboxylic cycle to produce ATP and CO(2); Belongs to the ATP-dependent AMP-binding enzyme family.

Synonyms:  ACSS1,  ACSS1p,  hACSS1,  DKFZP666B209,  Q5TF43 ...

Linkouts:  STRING  Pharos  UniProt  OMIM