Lysosomal lipase
Lysosomal lipase is a form of lipase which functions intracellularly, in the lysosomes.
| lipase A, lysosomal acid, cholesterol esterase (Wolman disease) | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | LIPA | ||||||
| NCBI gene | 3988 | ||||||
| HGNC | 6617 | ||||||
| OMIM | 278000 | ||||||
| RefSeq | NM_000235 | ||||||
| UniProt | P38571 | ||||||
| Other data | |||||||
| EC number | 3.1.1.13 | ||||||
| Locus | Chr. 10 q23.2-23.3 | ||||||
| |||||||
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. doi:10.1042/bj2270583. 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. Archived from the original on 2013-02-23. Retrieved 2011-08-09.
External links
- lysosomal+acid+lipase,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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