靶标:
LIPA
产品别名:
CESD; LAL; LIPA; lipase A, lysosomal acid type; lipase A, lysosomal acid type; lysosomal acid lipase/cholesteryl ester hydrolase; acid cholesteryl ester hydrolase; cholesterol ester hydrolase; cholesteryl esterase; lipase A, lysosomal acid, cholesterol esterase; lysosomal acid lipase; sterol esterase; 溶酶体酸脂肪酶A(LIPA); 胆固醇酯水解酶;
背景信息:
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],