Lysosomal Acid Lipase/Cholesteryl Ester Hydrolase (LIPA) Antibody – Rabbit Polyclonal

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]

LIPA: Crucial for the intracellular hydrolysis of cholesteryl esters and triglycerides that have been internalized via receptor- mediated endocytosis of lipoprotein particles. Important in mediating the effect of LDL (low density lipoprotein) uptake on suppression of hydroxymethylglutaryl-CoA reductase and activation of endogenous cellular cholesteryl ester formation. Defects in LIPA are the cause of Wolman disease (WOD). WOD is a severe manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. WOD occurs in infancy and is nearly always fatal before the age of 1 year. Defects in LIPA are the cause of cholesteryl ester storage disease (CESD). CESD is a mild manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. It is characterized by late-onset. Belongs to the AB hydrolase superfamily. Lipase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Hydrolase; EC 3.1.1.13; Lipid Metabolism - steroid biosynthesis

Chromosomal Location of Human Ortholog: 10q23.2-q23.3

Cellular Component: lysosome

Molecular Function: lipase activity; sterol esterase activity

Biological Process: cell morphogenesis; cell proliferation; cytokine production; fatty acid metabolic process; homeostasis of number of cells within a tissue; inflammatory response; lipid catabolic process; lung development; sterol metabolic process; tissue remodeling

Disease: Lysosomal Acid Lipase Deficiency