GeneID: 45
Names
| Common Name: | SMAD6 | Type: | Gene |
|---|---|---|---|
| Chromosome: | 15 (NC_000015.10) | Locus: | NG_012244.1 (SMAD6) |
| HUGO Symbol: | SMAD6 | Full Name: | SMAD family member 6 |
| Exons: | 4 | Introns: | 3 |
Description:
SMAD6 is a member of the SMAD family of proteins, which negatively regulate the transforming growth factor β (TGFβ) signalling pathway. SMAD6 preferentially inhibits the TGFβ/bone morphogenetic protein (BMP) receptors and interferes with the formation of receptor-activated SMAD complexes. There are two known isoforms of this protein. Polymorphisms in the SMAD6 gene associated with HbF levels in African American sickle cell patients.
Synonyms: HsT17432 , MADH6 , MADH7 , AOVD2
Comments:
N/A
Number of entries/variants: 2
Publications / Origin
- Massagué J, Seoane J, Wotton D, Smad transcription factors., Genes Dev. , 19(23), 2783-810, 2005
- Sebastiani P, Zhao Z, Abad-Grau MM, Riva A, Hartley SW, Sedgewick AE, Doria A, Montano M, Melista E, Terry D, Perls TT, Steinberg MH, Baldwin CT, A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples., BMC Genet. , 9(0), 6, 2008