Entrez gene ID | | 3988 |
Official gene symbol | | LIPA |
Full name | | lipase A, lysosomal acid, cholesterol esterase |
Aliases | | ,CESD,LAL, |
Gene summary | | 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 encoding the same protein have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 10 Locus: 10q23.2-q23.3 |
Gene position | | 91011660 - 90973326 Map Viewer |
Gene orientation | | minus |
Gene size | | 38335 bp |
Gene sequence |
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OMIM ID | | 613497 |
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