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Lipase A, lysosomal acid type is a protein that in humans is encoded by the LIPA gene.




Function


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].




References






Further reading



This article incorporates text from the United States National Library of Medicine, which is in the public domain.

Kata Kunci Pencarian: lipase a lysosomal acid type

• Lipase a, lysosomal acid type
• Lipase
• Acid hydrolase
• Lysosomal storage disease
• Lysosome
• Hyperlipidemia
• Acute pancreatitis
• Hypertriglyceridemia
• Genetic disorder
• List of conditions treated with hematopoietic stem cell transplantation