GENETIC ENCYCLOPEDIA
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gene: LIPA

id3988
symbolLIPA
organismHomo sapiens
full namelipase A, lysosomal acid type
summaryThis 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]
variant-disease

NM_000235.4(LIPA):c.894+1G>A AND Wolman disease

NM_000235.4(LIPA):c.894G>A (p.Gln298=) AND Lysosomal acid lipase deficiency

NM_000235.4(LIPA):c.539-5C>T AND not specified

NM_000235.4(LIPA):c.*939G>A AND Wolman disease

NM_001288979.1(LIPA):c.-203C>A AND Wolman disease

... 184 more


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