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lipa

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Official Full Name
lipase A, lysosomal acid, cholesterol esterase
Background
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]
Synonyms
LIPA; lipase A, lysosomal acid, cholesterol esterase; LAL; CESD; lysosomal acid lipase/cholesteryl ester hydrolase; sterol esterase; cholesteryl esterase; lysosomal acid lipase; cholesterol ester hydrolase; acid cholesteryl ester hydrolase; Wolman disease

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