Recombinant Human Lysosomal acid lipase/cholesteryl ester hydrolase (LIPA)

Uniprot Id

P38571

Target Species

Human

Target Name

LIPA

Target Full Name

Lysosomal acid lipase/cholesteryl ester hydrolase

Target Function

Catalyzes the deacylation of triacylglyceryl and cholesteryl ester core lipids of endocytosed low density lipoproteins to generate free fatty acids and cholesterol.

Target Involvement

Wolman disease (WOD); Cholesteryl ester storage disease (CESD)

Target Subcellular Location

Lysosome.

Target Protein Families

AB hydrolase superfamily, Lipase family

Target Tissue Specificity

Most abundantly expressed in brain, lung, kidney and mammary gland, a moderate expression seen in placenta and expressed at low levels in the liver and heart.

Target Research Area

Metabolism, Cardiovascular

Target Synonyms

Acid cholesteryl ester hydrolase; CESD; cholesterol ester hydrolase; cholesterol ester storage disease; Cholesteryl esterase; Hydrolase deficiency; LAL; LAL deficiency cholesterol ester; LICH_HUMAN; lipA; LIPA deficiency; Lipase A; lipase A; lysosomal acid; cholesterol esterase; lysosomal acid lipase; lysosomal acid lipase deficiency; Lysosomal acid lipase/cholesteryl ester hydrolase; Sterol esterase

Target Background

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.