SMAD family member 6
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
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]
Acts as a mediator of TGF-beta and BMP antiflammatory activity. Suppresses IL1R-TLR signaling through its direct interaction with PEL1, preventing NF-kappa-B activation, nuclear transport and NF-kappa-B-mediated expression of proinflammatory genes. May block the BMP-SMAD1 signaling pathway by competing with SMAD4 for receptor-activated SMAD1-binding. Binds to regulatory elements in target promoter regions.
Covered on Genetics Home Reference:
From NCBI Gene:
- Aortic valve disease 2
Rare heterozygous SMAD6 variants, in the presence of a common risk allele (rs1884302) near the BMP2 locus, are strongly associated with non-syndromic midline craniosynostosis and confer a very high risk for disease development. Craniosynostosis is defined as the premature fusion of the cranial sutures, resulting in brain compression and suture-specific craniofacial dysmorphism.
Aortic valve disease 2 (AOVD2): A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome. [MIM:614823]