SMAD family member 6, also known as SMAD6, is a
protein that in humans is encoded by the SMAD6gene.[5]
SMAD6 is a protein that, as its name describes, is a homolog of the
Drosophila gene "
mothers against decapentaplegic". It belongs to the
SMAD family of proteins, which belong to the
TGFβ superfamily of modulators. Like many other TGFβ family members SMAD6 is involved in
cell signalling. It acts as a regulator of TGFβ family (such as
bone morphogenetic proteins) activity by competing with
SMAD4 and preventing the transcription of
SMAD4's gene products. There are two known isoforms of this protein.
Nomenclature
The SMAD proteins are homologs of both the drosophila protein, mothers against decapentaplegic (MAD) and the C. elegans protein SMA. The name is a combination of the two. During Drosophila research, it was found that a mutation in the gene MAD in the mother repressed the gene decapentaplegic 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]
Disease associations
Heterozygous, damaging mutations in SMAD6 are the most frequent genetic cause of non-syndromic
craniosynostosis identified to date.[7]
Interactions
Mothers against decapentaplegic homolog 6 has been shown to
interact with:
Afrakhte M, Morén A, Jossan S, Itoh S, Sampath K, Westermark B, Heldin CH, Heldin NE, ten Dijke P (1998). "Induction of inhibitory Smad6 and Smad7 mRNA by TGF-beta family members". Biochem. Biophys. Res. Commun. 249 (2): 505–11.
doi:
10.1006/bbrc.1998.9170.
PMID9712726.
Galvin KM, Donovan MJ, Lynch CA, Meyer RI, Paul RJ, Lorenz JN, Fairchild-Huntress V, Dixon KL, Dunmore JH, Gimbrone MA, Falb D, Huszar D (2000). "A role for smad6 in development and homeostasis of the cardiovascular system". Nat. Genet. 24 (2): 171–4.
doi:
10.1038/72835.
PMID10655064.
S2CID24365746.
SMAD family member 6, also known as SMAD6, is a
protein that in humans is encoded by the SMAD6gene.[5]
SMAD6 is a protein that, as its name describes, is a homolog of the
Drosophila gene "
mothers against decapentaplegic". It belongs to the
SMAD family of proteins, which belong to the
TGFβ superfamily of modulators. Like many other TGFβ family members SMAD6 is involved in
cell signalling. It acts as a regulator of TGFβ family (such as
bone morphogenetic proteins) activity by competing with
SMAD4 and preventing the transcription of
SMAD4's gene products. There are two known isoforms of this protein.
Nomenclature
The SMAD proteins are homologs of both the drosophila protein, mothers against decapentaplegic (MAD) and the C. elegans protein SMA. The name is a combination of the two. During Drosophila research, it was found that a mutation in the gene MAD in the mother repressed the gene decapentaplegic 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]
Disease associations
Heterozygous, damaging mutations in SMAD6 are the most frequent genetic cause of non-syndromic
craniosynostosis identified to date.[7]
Interactions
Mothers against decapentaplegic homolog 6 has been shown to
interact with:
Afrakhte M, Morén A, Jossan S, Itoh S, Sampath K, Westermark B, Heldin CH, Heldin NE, ten Dijke P (1998). "Induction of inhibitory Smad6 and Smad7 mRNA by TGF-beta family members". Biochem. Biophys. Res. Commun. 249 (2): 505–11.
doi:
10.1006/bbrc.1998.9170.
PMID9712726.
Galvin KM, Donovan MJ, Lynch CA, Meyer RI, Paul RJ, Lorenz JN, Fairchild-Huntress V, Dixon KL, Dunmore JH, Gimbrone MA, Falb D, Huszar D (2000). "A role for smad6 in development and homeostasis of the cardiovascular system". Nat. Genet. 24 (2): 171–4.
doi:
10.1038/72835.
PMID10655064.
S2CID24365746.