2m2f: Difference between revisions
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{{STRUCTURE_2m2f| PDB=2m2f | SCENE= }} | |||
===The membran-proximal domain of ADAM17=== | |||
{{ABSTRACT_PUBMED_23521534}} | |||
The | ==Disease== | ||
[[http://www.uniprot.org/uniprot/ADA17_HUMAN ADA17_HUMAN]] Defects in ADAM17 are a cause of neonatal inflammatory skin and bowel disease (NISBD) [MIM:[http://omim.org/entry/614328 614328]]. NISBD is a disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. The skin lesions involve perioral and perianal erythema, psoriasiform erythroderma, with flares of erythema, scaling, and widespread pustules. Gastrointestinal symptoms include malabsorptive diarrhea that is exacerbated by intercurrent gastrointestinal infections. The hair is short or broken, and the eyelashes and eyebrows are wiry and disorganized.<ref>PMID:22010916</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/ADA17_HUMAN ADA17_HUMAN]] Cleaves the membrane-bound precursor of TNF-alpha to its mature soluble form. Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface. Responsible for the proteolytic release of several other cell-surface proteins, including p75 TNF-receptor, interleukin 1 receptor type II, p55 TNF-receptor, transforming growth factor-alpha, L-selectin, growth hormone receptor, MUC1 and the amyloid precursor protein. Also involved in the activation of Notch pathway (By similarity).<ref>PMID:12441351</ref> <ref>PMID:20592283</ref> | |||
==About this Structure== | |||
[[2m2f]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2M2F OCA]. | |||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: ADAM 17 endopeptidase]] | |||
[[Category: Homo sapiens]] | |||
[[Category: Duesterhoeft, S.]] | |||
[[Category: Groetzinger, J.]] | |||
[[Category: Hung, C.]] | |||
[[Category: Jung, S.]] | |||
[[Category: Lorenzen, I.]] | |||
[[Category: Soennichsen, F D.]] | |||
[[Category: Tholey, A.]] | |||
[[Category: Adam17]] | |||
[[Category: Closed conformer]] | |||
[[Category: Hydrolase regulator]] | |||
[[Category: Membrane-proximal domain]] | |||