SMAD6 ist ein Gen, das durch das Symbol SMAD6 kodiert wird. Es ist auch bekannt als: Mothers against decapentaplegic homolog 6; MAD homolog 6; SMAD family member 6; SMAD 6; MADH6. SMAD6 hat eine Masse von 53.5kDa, eine Aminosäurelänge von 496, und ist an folgenden Krankheiten beteiligt: Aortic valve disease 2; Craniosynostosis 7.
Wir bieten 3 antikörper gegen SMAD6, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC, ELISA and ICC/IF mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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.
Gewebespezifität
Ubiquitous in various organs, with higher levels in lung. Isoform B is up-regulated in diseased heart tissue.
Rolle bei Krankheiten
Aortic valve disease 2: 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.
Craniosynostosis 7: A form of craniosynostosis, a primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.
Sequenzähnlichkeiten
Belongs to the dwarfin/SMAD family.
Posttranslationale Modifikation
Phosphorylated by BMP type 1 receptor kinase and by PRKX.
