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 encoding the same protein have been found for this gene.
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Protein Aliases: Acid cholesteryl ester hydrolase; cholesterol ester hydrolase; Cholesterol esterase (pancreatic) see D3Wox12 D3Wox13 D3Wox26 and D3Mgh25; Cholesteryl esterase; Lipase A; lipase A, lysosomal acid, cholesterol esterase; lysosomal acid lipase; lysosomal acid lipase 1; lysosomal acid lipase A; Lysosomal acid lipase/cholesteryl ester hydrolase; pancreatic cholesterol esterase; RP11-341B24.1; Sterol esterase
Gene Aliases: AA960673; CESD; Chole; Chole2; LAL; Lip-1; Lip1; LIPA