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

  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 1144878Freely accessible. 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 3157552Freely accessible. PMID 21606135.


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