2wwz: Difference between revisions
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{{STRUCTURE_2wwz| PDB=2wwz | SCENE= }} | {{STRUCTURE_2wwz| PDB=2wwz | SCENE= }} | ||
===TAB2 NZF DOMAIN IN COMPLEX WITH LYS63-LINKED DI-UBIQUITIN, P212121=== | |||
{{ABSTRACT_PUBMED_19935683}} | |||
===TAB2 | ==Disease== | ||
[[http://www.uniprot.org/uniprot/TAB2_HUMAN TAB2_HUMAN]] Defects in TAB2 are the cause of congenital heart disease non-syndromic type 2 (CHTD2) [MIM:[http://omim.org/entry/612863 612863]]. It is a disease characterized by congenital developmental abnormalities involving structures of the heart. Clinical features include left ventricular outflow tract obstruction, subaortic stenosis, residual aortic regurgitation, atrial fibrillation, bicuspid aortic valve and aortic dilation. Note=A chromosomal aberration involving TAB2 has been found in a family with congenital heart disease. Translocation t(2;6)(q21;q25).<ref>PMID:20493459</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/TAB2_HUMAN TAB2_HUMAN]] Adapter linking MAP3K7/TAK1 and TRAF6. Promotes MAP3K7 activation in the IL1 signaling pathway. The binding of 'Lys-63'-linked polyubiquitin chains to TAB2 promotes autophosphorylation of MAP3K7 at 'Thr-187'. Involved in heart development.<ref>PMID:10882101</ref><ref>PMID:11460167</ref><ref>PMID:20493459</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:019935683</ref><references group="xtra"/> | <ref group="xtra">PMID:019935683</ref><references group="xtra"/><references/> | ||
[[Category: Bos taurus]] | [[Category: Bos taurus]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
