3edi
From Proteopedia
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{{STRUCTURE_3edi| PDB=3edi | SCENE= }} | {{STRUCTURE_3edi| PDB=3edi | SCENE= }} | ||
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===Crystal structure of tolloid-like protease 1 (TLL-1) protease domain=== | ===Crystal structure of tolloid-like protease 1 (TLL-1) protease domain=== | ||
| + | ==Disease== | ||
| + | [[http://www.uniprot.org/uniprot/TLL1_HUMAN TLL1_HUMAN]] Defects in TLL1 are the cause of atrial septal defect type 6 (ASD6) [MIM:[http://omim.org/entry/613087 613087]]. A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.<ref>PMID:18830233</ref> | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/TLL1_HUMAN TLL1_HUMAN]] Protease which processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogenesis. | ||
==About this Structure== | ==About this Structure== | ||
[[3edi]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3EDI OCA]. | [[3edi]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3EDI OCA]. | ||
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| + | ==Reference== | ||
| + | <references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Sweeney, A Mac.]] | [[Category: Sweeney, A Mac.]] | ||
Revision as of 20:46, 24 March 2013
Contents |
Crystal structure of tolloid-like protease 1 (TLL-1) protease domain
Disease
[TLL1_HUMAN] Defects in TLL1 are the cause of atrial septal defect type 6 (ASD6) [MIM:613087]. A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.[1]
Function
[TLL1_HUMAN] Protease which processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogenesis.
About this Structure
3edi is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- ↑ Stanczak P, Witecka J, Szydlo A, Gutmajster E, Lisik M, Augusciak-Duma A, Tarnowski M, Czekaj T, Czekaj H, Sieron AL. Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD. Eur J Hum Genet. 2009 Mar;17(3):344-51. doi: 10.1038/ejhg.2008.175. Epub 2008 Oct, 1. PMID:18830233 doi:10.1038/ejhg.2008.175
