SMAD family member 6, also known asSMAD6, is aprotein that in humans is encoded by theSMAD6gene.[5]
SMAD6 is a protein that, as its name describes, is a homolog of theDrosophila gene "mothers against decapentaplegic". It belongs to theSMAD family of proteins, which belong to theTGFβ superfamily of modulators. Like many other TGFβ family members SMAD6 is involved incell signalling. It acts as a regulator of TGFβ family (such asbone morphogenetic proteins) activity by competing withSMAD4 and preventing the transcription ofSMAD4's gene products. There are two known isoforms of this protein.
The SMAD proteins are homologs of both the drosophila protein, mothers against decapentaplegic (MAD) and theC. elegans protein SMA. The name is a combination of the two. DuringDrosophila research, it was found that a mutation in the geneMAD in the mother repressed the genedecapentaplegic in the embryo. The phrase "Mothers against" was added as a humorous take-off on organizations opposing various issues e.g.,Mothers Against Drunk Driving, or MADD; and based on a tradition of such unusual naming within the gene research community.[6]
Heterozygous, damaging mutations in SMAD6 are the most frequent genetic cause of non-syndromiccraniosynostosis identified to date.[7]
Mothers against decapentaplegic homolog 6 has been shown tointeract with:
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