LIPA

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolLIPA
Namelipase A, lysosomal acid type
Typeprotein-coding
Sourcemygene

Summary

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].

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