Gene Symbol | SMAD7 |
Entrez Gene ID | 4092 |
Full Name | SMAD family member 7 |
Synonyms | CRCS3,MADH7,MADH8 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]. |
Disorder MIM: | |
Disorder Html: | {Colorectal cancer, susceptibility to, 3}, 612229 (3) |