rs200420117

This variant is located in the LIPA gene.

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ClinVar annotation

Conflicting Classifications

4 submitters1 publication

not provided; Wolman disease; Lysosomal acid lipase deficiency; Cardiovascular phenotype

About 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]

View all LIPA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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