1f6w: Difference between revisions
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{{STRUCTURE_1f6w| PDB=1f6w | SCENE= }} | {{STRUCTURE_1f6w| PDB=1f6w | SCENE= }} | ||
===STRUCTURE OF THE CATALYTIC DOMAIN OF HUMAN BILE SALT ACTIVATED LIPASE=== | |||
{{ABSTRACT_PUBMED_11045623}} | |||
== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/CEL_HUMAN CEL_HUMAN]] Defects in CEL are a cause of maturity-onset diabetes of the young type 8 with exocrine dysfunction (MODY8) [MIM:[http://omim.org/entry/609812 609812]]; also known as diabetes and pancreatic exocrine dysfunction (DPED). MODY is a form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.<ref>PMID:16369531</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/CEL_HUMAN CEL_HUMAN]] Catalyzes fat and vitamin absorption. Acts in concert with pancreatic lipase and colipase for the complete digestion of dietary triglycerides. | |||
==About this Structure== | ==About this Structure== | ||
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==See Also== | ==See Also== | ||
*[[Cholesterol esterase|Cholesterol esterase]] | |||
*[[Lipase|Lipase]] | *[[Lipase|Lipase]] | ||
==Reference== | ==Reference== | ||
<ref group="xtra">PMID:011045623</ref><references group="xtra"/> | <ref group="xtra">PMID:011045623</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Triacylglycerol lipase]] | [[Category: Triacylglycerol lipase]] | ||
Revision as of 06:49, 25 March 2013
STRUCTURE OF THE CATALYTIC DOMAIN OF HUMAN BILE SALT ACTIVATED LIPASESTRUCTURE OF THE CATALYTIC DOMAIN OF HUMAN BILE SALT ACTIVATED LIPASE
Template:ABSTRACT PUBMED 11045623
DiseaseDisease
[CEL_HUMAN] Defects in CEL are a cause of maturity-onset diabetes of the young type 8 with exocrine dysfunction (MODY8) [MIM:609812]; also known as diabetes and pancreatic exocrine dysfunction (DPED). MODY is a form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.[1]
FunctionFunction
[CEL_HUMAN] Catalyzes fat and vitamin absorption. Acts in concert with pancreatic lipase and colipase for the complete digestion of dietary triglycerides.
About this StructureAbout this Structure
1f6w is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See AlsoSee Also
ReferenceReference
- ↑ Raeder H, Johansson S, Holm PI, Haldorsen IS, Mas E, Sbarra V, Nermoen I, Eide SA, Grevle L, Bjorkhaug L, Sagen JV, Aksnes L, Sovik O, Lombardo D, Molven A, Njolstad PR. Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Nat Genet. 2006 Jan;38(1):54-62. Epub 2005 Dec 20. PMID:16369531 doi:10.1038/ng1708