SMAD family member 4
Última actualización 2 de mayo de 2023
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El SMAD4 gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus. The SMAD4 protein is part of a signaling pathway, called the transforming growth factor beta (TGF-β) pathway, that allows the environment outside the cell to affect gene activity and protein production within the cell. The signaling process begins when a TGF-β protein attaches (binds) to a receptor protein on the cell surface, which turns on (activates) a group of related SMAD proteins. The SMAD proteins bind to the SMAD4 protein and form a protein complex, which then moves to the cell nucleus. In the nucleus, the SMAD protein complex binds to specific areas of DNA where it controls the activity of particular genes and regulates cell growth and division (proliferation). By controlling these cellular processes, the SMAD4 protein is involved in the development of many body systems.
Normal function
El SMAD4 gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus. The SMAD4 protein is part of a signaling pathway, called the transforming growth factor beta (TGF-β) pathway, that allows the environment outside the cell to affect gene activity and protein production within the cell. The signaling process begins when a TGF-β protein attaches (binds) to a receptor protein on the cell surface, which turns on (activates) a group of related SMAD proteins. The SMAD proteins bind to the SMAD4 protein and form a protein complex, which then moves to the cell nucleus. In the nucleus, the SMAD protein complex binds to specific areas of DNA where it controls the activity of particular genes and regulates cell growth and division (proliferation). By controlling these cellular processes, the SMAD4 protein is involved in the development of many body systems.
The SMAD4 protein serves both as a transcription factor and as a tumour suppressor. Transcription factors help control the activity of particular genes, and tumour suppressors keep cells from growing and dividing too fast or in an uncontrolled way.
Conditions referring to this gene or chromosome
Otros nombres
DPC4
JIP
MAD (mothers against decapentaplegic, Drosophila) homolog 4
MAD, mothers against decapentaplegic homolog 4
MAD, mothers against decapentaplegic homolog 4 (Drosophila)
MADH4
Mothers against decapentaplegic, Drosophila, homolog of, 4
SMAD, mothers against DPP homolog 4 (Drosophila)
SMAD4_HUMAN
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Lecturas adicionales y referencias
- SMAD family member 4; MedlinePlus, National Library of Medicine.
- Andrabi S, Bekheirnia MR, Robbins-Furman P, Lewis RA, Prior TW, Potocki L. SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction. Am J Med Genet A. 2011 May;155A(5):1165-9. doi: 10.1002/ajmg.a.33968. Epub 2011 Apr 4.
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- Lin AE, Alali A, Starr LJ, Shah N, Beavis A, Pereira EM, Lindsay ME, Klugman S. Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome. Am J Med Genet A. 2020 Feb;182(2):328-337. doi: 10.1002/ajmg.a.61430. Epub 2019 Dec 14.
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