GeneID: 45


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

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


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Publications / Origin

  1. Massagué J, Seoane J, Wotton D, Smad transcription factors., Genes Dev. , 19(23), 2783-810, 2005 PubMed
  2. 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 PubMed
Created on , Last reviewed on 2016-04-25 15:04:11 (Show full history)

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