Lysosomal lipase: Difference between revisions
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{{protein | {{infobox protein | ||
|Name=lipase A, lysosomal acid, cholesterol esterase (Wolman disease) | |Name=lipase A, lysosomal acid, cholesterol esterase (Wolman disease) | ||
|caption= | |caption= | ||
| Line 12: | Line 12: | ||
|UniProt=P38571 | |UniProt=P38571 | ||
|PDB= | |PDB= | ||
|ECnumber=3.1.1. | |ECnumber=3.1.1.13 | ||
|Chromosome=10 | |Chromosome=10 | ||
|Arm=q | |Arm=q | ||
| Line 21: | Line 21: | ||
==Clinical significance== | ==Clinical significance== | ||
A deficiency | A deficiency associated with [[lysosomal acid lipase deficiency]], [[Wolman disease]], and [[cholesteryl ester storage disease]]. | ||
[[Chlorpromazine]] is an inhibitor of lysosomal lipase.<ref name="pmid4004781">{{cite journal | | [[Chlorpromazine]] is an inhibitor of lysosomal lipase.<ref name="pmid4004781">{{cite journal |vauthors=Sauro VS, Klamut HJ, Lin CH, Strickland KP |title=Lysosomal triacylglycerol lipase activity in L6 myoblasts and its changes on differentiation |journal=Biochem. J. |volume=227 |issue=2 |pages=583–9 |year=1985 |pmid=4004781 |pmc=1144878}}</ref> | ||
A genome wide survey suggests that lysosomal lipase A (located at chromosome 10q23.31) is associated with coronary artery disease in humans.<ref name="Wild2011">{{cite journal |vauthors=Wild PS, Zeller T, Schillert A, etal |title=A Genome-wide Association Study Identifies LIPA as a Susceptibility Gene for Coronary Artery Disease |journal=Circ Cardiovasc Genet |date=May 2011 |pmid=21606135 |doi=10.1161/CIRCGENETICS.110.958728 |url=http://circgenetics.ahajournals.org/cgi/pmidlookup?view=long&pmid=21606135 |volume=4 |issue=4 |pages=403–12 |pmc=3157552}}</ref> | |||
==References== | ==References== | ||
{{reflist}} | |||
==External links== | ==External links== | ||
* {{MeshName|lysosomal+acid+lipase,+human}} | * {{MeshName|lysosomal+acid+lipase,+human}} | ||
{{Esterases}} | |||
{{biochem-stub}} | {{biochem-stub}} | ||
Latest revision as of 01:38, 25 August 2017
| 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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