DISEASES

Disease-gene associations mined from literature

Literature associating CES1 and Noonan syndrome 2

CES1 [ENSP00000353720]

Acyl-coenzyme A:cholesterol acyltransferase; Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs. Hydrolyzes aromatic and aliphatic esters, but has no catalytic activity toward amides or a fatty acyl-CoA ester. Hydrolyzes the methyl ester group of cocaine to form benzoylecgonine. Catalyzes the transesterification of cocaine to form cocaethylene. Displays fatty acid ethyl ester synthase activity, catalyzing the ethyl esterification of oleic acid to ethyloleate; Carboxylesterases

Synonyms:  CES1,  CES1p,  hCES1,  P23141,  CES2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM