P38571.2
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
Calculated MW: 39kDa/45kDa Observed MW: 40-45kDa
NCBI Official Full Name
Lysosomal acid lipase/cholesteryl ester hydrolase
NCBI Official Synonym Full Names
lipase A, lysosomal acid, cholesterol esterase
NCBI Official Synonym Symbols
NCBI Protein Information
lysosomal acid lipase/cholesteryl ester hydrolase; sterol esterase; cholesteryl esterase; cholesterol ester hydrolase; acid cholesteryl ester hydrolase
UniProt Protein Name
Lysosomal acid lipase/cholesteryl ester hydrolase
UniProt Synonym Protein Names
Cholesteryl esterase; Lipase A; Sterol esterase
UniProt Synonym Gene Names
UniProt Entry Name
LICH_HUMAN
NCBI Summary for LIPA
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]
UniProt Comments for LIPA
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: EC 3.1.1.13; Lipid Metabolism - steroid biosynthesis; Hydrolase
Chromosomal Location of Human Ortholog: 10q23.2-q23.3
Cellular Component: lysosome
Molecular Function: sterol esterase activity; lipase activity
Biological Process: cell proliferation; homeostasis of number of cells within a tissue; tissue remodeling; cell morphogenesis; cytokine production; inflammatory response; lipid catabolic process; lung development
Disease: Lysosomal Acid Lipase Deficiency
Research Articles on LIPA
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Products associated with anti-LIPA antibody
Pathways associated with anti-LIPA antibody
Diseases associated with anti-LIPA antibody
Organs/Tissues associated with anti-LIPA antibody
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