1tgj
From Proteopedia
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- | [[Image:1tgj.png|left|200px]] | ||
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{{STRUCTURE_1tgj| PDB=1tgj | SCENE= }} | {{STRUCTURE_1tgj| PDB=1tgj | SCENE= }} | ||
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===HUMAN TRANSFORMING GROWTH FACTOR-BETA 3, CRYSTALLIZED FROM DIOXANE=== | ===HUMAN TRANSFORMING GROWTH FACTOR-BETA 3, CRYSTALLIZED FROM DIOXANE=== | ||
+ | {{ABSTRACT_PUBMED_8819159}} | ||
- | + | ==Disease== | |
+ | [[http://www.uniprot.org/uniprot/TGFB3_HUMAN TGFB3_HUMAN]] Defects in TGFB3 are a cause of familial arrhythmogenic right ventricular dysplasia type 1 (ARVD1) [MIM:[http://omim.org/entry/107970 107970]]; also known as arrhythmogenic right ventricular cardiomyopathy 1 (ARVC1). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall.<ref>PMID:15639475</ref> | ||
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+ | ==Function== | ||
+ | [[http://www.uniprot.org/uniprot/TGFB3_HUMAN TGFB3_HUMAN]] Involved in embryogenesis and cell differentiation. | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
- | <ref group="xtra">PMID:008819159</ref><references group="xtra"/> | + | <ref group="xtra">PMID:008819159</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Gruetter, M G.]] | [[Category: Gruetter, M G.]] |
Revision as of 06:37, 25 March 2013
Contents |
HUMAN TRANSFORMING GROWTH FACTOR-BETA 3, CRYSTALLIZED FROM DIOXANE
Template:ABSTRACT PUBMED 8819159
Disease
[TGFB3_HUMAN] Defects in TGFB3 are a cause of familial arrhythmogenic right ventricular dysplasia type 1 (ARVD1) [MIM:107970]; also known as arrhythmogenic right ventricular cardiomyopathy 1 (ARVC1). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall.[1]
Function
[TGFB3_HUMAN] Involved in embryogenesis and cell differentiation.
About this Structure
1tgj is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Mittl PR, Priestle JP, Cox DA, McMaster G, Cerletti N, Grutter MG. The crystal structure of TGF-beta 3 and comparison to TGF-beta 2: implications for receptor binding. Protein Sci. 1996 Jul;5(7):1261-71. PMID:8819159
- ↑ Beffagna G, Occhi G, Nava A, Vitiello L, Ditadi A, Basso C, Bauce B, Carraro G, Thiene G, Towbin JA, Danieli GA, Rampazzo A. Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc Res. 2005 Feb 1;65(2):366-73. PMID:15639475 doi:S0008-6363(04)00440-7