DISEASES

Disease-gene associations mined from literature

Literature associating LIPA and lipid storage disease

LIPA [ENSP00000337354]

Lysosomal acid lipase/cholesteryl ester hydrolase; Crucial for the intracellular hydrolysis of cholesteryl esters and triglycerides that have been internalized via receptor- mediated endocytosis of lipoprotein particles. Important in mediating the effect of LDL (low density lipoprotein) uptake on suppression of hydroxymethylglutaryl-CoA reductase and activation of endogenous cellular cholesteryl ester formation; Belongs to the AB hydrolase superfamily. Lipase family.

Synonyms:  LIPA,  LOC101926887,  B4DE67,  LIPA-001,  LIPA-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM