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MGP001823

UniProt Annotations

Entry Information
Gene Namelipase A, lysosomal acid, cholesterol esterase
Protein EntryLICH_HUMAN
UniProt IDP38571
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P38571-1; Sequence=Displayed; Name=2; IsoId=P38571-2; Sequence=VSP_018596, VSP_018597; Note=No experimental confirmation available.;
Catalytic ActivityA steryl ester + H(2)O = a sterol + a fatty acid.
DiseaseCholesteryl ester storage disease (CESD) [MIM:278000]: A mild manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. It is characterized by late-onset. {ECO:0000269|PubMed:8146180, ECO:0000269|PubMed:9633819}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseWolman disease (WOD) [MIM:278000]: A severe manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. WD occurs in infancy and is nearly always fatal before the age of 1 year. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCrucial 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.
SimilarityBelongs to the AB hydrolase superfamily. Lipase family. {ECO:0000305}.
Subcellular LocationLysosome.
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