Gene Symbol | SMAD6 |
Entrez Gene ID | 4091 |
Full Name | SMAD family member 6 |
Synonyms | AOVD2,HsT17432,MADH6,MADH7 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014]. |
Disorder MIM: | |
Disorder Html: | Aortic valve disease 2, 614823 (3); {Craniosynostosis 7, susceptibility to}, 617439 (3) |