Lysosomal lipase
| lipase A, lysosomal acid, cholesterol esterase (Wolman disease) | |
|---|---|
| Identifiers | |
| Symbol | LIPA |
| Entrez | 3988 |
| HUGO | 6617 |
| OMIM | 278000 |
| RefSeq | NM_000235 |
| UniProt | P38571 |
| Other data | |
| EC number | 3.1.1.13 |
| Locus | Chr. 10 q23.2-23.3 |
Lysosomal lipase is a form of lipase which functions intracellularly, in the lysosomes.
Clinical significance
A deficiency associated with Lysosomal Acid Lipase Deficiency, Wolman disease, and cholesteryl ester storage disease.
Chlorpromazine is an inhibitor of lysosomal lipase.[1]
A genome wide survey suggests that lysosomal lipase A (located at chromosome 10q23.31) is associated with coronary artery disease in humans.[2]
References
- ↑ Sauro VS, Klamut HJ, Lin CH, Strickland KP (1985). "Lysosomal triacylglycerol lipase activity in L6 myoblasts and its changes on differentiation". Biochem. J. 227 (2): 583–9. PMC 1144878. PMID 4004781.
- ↑ Wild PS, Zeller T, Schillert A, et al. (May 2011). "A Genome-wide Association Study Identifies LIPA as a Susceptibility Gene for Coronary Artery Disease". Circ Cardiovasc Genet 4 (4): 403–12. doi:10.1161/CIRCGENETICS.110.958728. PMC 3157552. PMID 21606135.
External links
- lysosomal acid lipase, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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