Lysosomal lipase

Lysosomal lipase is a form of lipase which functions intracellularly, in the lysosomes.

lipase A, lysosomal acid, cholesterol esterase (Wolman disease)
Identifiers
SymbolLIPA
NCBI gene3988
HGNC6617
OMIM278000
RefSeqNM_000235
UniProtP38571
Other data
EC number3.1.1.13
LocusChr. 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

  1. 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.
  2. 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.


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.