Aliases for LIPA Gene
External Ids for LIPA Gene
Previous GeneCards Identifiers for LIPA Gene
This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
GeneCards Summary for LIPA Gene
LIPA (Lipase A, Lysosomal Acid Type) is a Protein Coding gene. Diseases associated with LIPA include Lysosomal Acid Lipase Deficiency and Cholesterol Ester Storage Disease. Among its related pathways are cholesterol biosynthesis I and Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF). Gene Ontology (GO) annotations related to this gene include lipase activity and sterol esterase activity. An important paralog of this gene is LIPM.
UniProtKB/Swiss-Prot Summary for LIPA Gene
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.