SMAD family member 3
Last updated 18 Aug 2020
Meets Patient’s editorial guidelines
- DownloadDownload
- Share
- Language
- Discussion
- Audio Version
- Add to preferred sources on Google
The SMAD3 gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus. This signaling pathway, called the transforming growth factor-beta (TGF-β) pathway, allows the environment outside the cell to affect cell function, including how the cell produces other proteins. The signaling process begins when a TGF-β protein attaches (binds) to a receptor on the cell surface, which activates a group of related SMAD proteins (including the SMAD3 protein). These SMAD proteins combine to form a protein complex, which then moves to the cell nucleus. In the nucleus, the SMAD protein complex binds to specific areas of DNA to control the activity of particular genes. Through the TGF-β signaling pathway, the SMAD3 protein also influences many aspects of cellular processes, including cell growth and division (proliferation), cell movement (migration), and controlled cell death (apoptosis).
Normal function
The SMAD3 gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus. This signaling pathway, called the transforming growth factor-beta (TGF-β) pathway, allows the environment outside the cell to affect cell function, including how the cell produces other proteins. The signaling process begins when a TGF-β protein attaches (binds) to a receptor on the cell surface, which activates a group of related SMAD proteins (including the SMAD3 protein). These SMAD proteins combine to form a protein complex, which then moves to the cell nucleus. In the nucleus, the SMAD protein complex binds to specific areas of DNA to control the activity of particular genes. Through the TGF-β signaling pathway, the SMAD3 protein also influences many aspects of cellular processes, including cell growth and division (proliferation), cell movement (migration), and controlled cell death (apoptosis).
Conditions referring to this gene or chromosome
Other names
hMAD-3
hSMAD3
JV15-2
MAD homolog 3
MAD, mothers against decapentaplegic homolog 3
mad3
MADH3
mothers against decapentaplegic homolog 3
SMAD, mothers against DPP homolog 3
SMAD3_HUMAN
Related patient information and medicines
Patient information leaflet
Alcohol use disorder
Many people drink alcohol. For some, alcohol is something that they enjoy in moderation. Some people can find it very difficult to control, or stop, their drinking. What is alcohol use disorder. Alcohol use disorder means drinking alcohol in a way that causes harm. If you or a family member has alcohol use disorder then treatment and support can.
Patient information leaflet
Retinoblastoma
Retinoblastoma is a tumour which usually affects children aged under 5. Most commonly, it affects children aged under 2, including newborn babies. It is a tumour of the nerve layer of the retina, which is the ... Siblings of an affected child in a family in which no other family members have had the disease have only a small risk of disease. See.
Patient information leaflet
Hereditary spherocytosis
Hereditary spherocytosis (HS) is an inherited condition of red blood cells. The disease can be mild and go unrecognised in some people. In others there may be severe anaemia requiring regular blood transfusions. This usually helps ... What is hereditary spherocytosis. Hereditary spherocytosis (HS) is an inherited condition that affects your red.
Patient information leaflet
Albinism
Ocular albinism (OA), which is much less common, involves only the eyes, while skin and hair may appear similar or slightly lighter than that of other family members. How common is albinism. Approximately 1 in 17,000 people in Europe and the USA have one of the types of albinism, although in some parts of the world it is more common than this. In.
Patient information leaflet
Muscular dystrophy
Muscular dystrophy is an inherited (genetic) disorder causing muscle weakness. There are different types of muscular dystrophy, which vary as to how severe they are, ranging from very mild to severe. The different types also vary as to what age they begin. What is muscular dystrophy. Muscular dystrophy (MD) is the name given to a group of.
Patient information leaflet
Domestic violence
...rstand what counts as domestic violence or abuse and how to get helpDomestic violence is an abuse of human rights, an abuse that occurs within a relationship where there should be love and trust. In 2013, the UK government agreed to define domestic violence and abuse as: "Any incident or pattern of incidents of controlling, coercive or.
Further reading and references
- SMAD family member 3; MedlinePlus, National Library of Medicine.
- Liu L, Liu X, Ren X, Tian Y, Chen Z, Xu X, Du Y, Jiang C, Fang Y, Liu Z, Fan B, Zhang Q, Jin G, Yang X, Zhang X. Smad2 and Smad3 have differential sensitivity in relaying TGFbeta signaling and inversely regulate early lineage specification. Sci Rep. 2016 Feb 24;6:21602. doi: 10.1038/srep21602.
- Regalado ES, Guo DC, Villamizar C, Avidan N, Gilchrist D, McGillivray B, Clarke L, Bernier F, Santos-Cortez RL, Leal SM, Bertoli-Avella AM, Shendure J, Rieder MJ, Nickerson DA; NHLBI GO Exome Sequencing Project; Milewicz DM. Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res. 2011 Sep 2;109(6):680-6. doi: 10.1161/CIRCRESAHA.111.248161. Epub 2011 Jul 21.
- van de Laar IM, Oldenburg RA, Pals G, Roos-Hesselink JW, de Graaf BM, Verhagen JM, Hoedemaekers YM, Willemsen R, Severijnen LA, Venselaar H, Vriend G, Pattynama PM, Collee M, Majoor-Krakauer D, Poldermans D, Frohn-Mulder IM, Micha D, Timmermans J, Hilhorst-Hofstee Y, Bierma-Zeinstra SM, Willems PJ, Kros JM, Oei EH, Oostra BA, Wessels MW, Bertoli-Avella AM. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet. 2011 Feb;43(2):121-6. doi: 10.1038/ng.744. Epub 2011 Jan 9.
- van de Laar IM, van der Linde D, Oei EH, Bos PK, Bessems JH, Bierma-Zeinstra SM, van Meer BL, Pals G, Oldenburg RA, Bekkers JA, Moelker A, de Graaf BM, Matyas G, Frohn-Mulder IM, Timmermans J, Hilhorst-Hofstee Y, Cobben JM, Bruggenwirth HT, van Laer L, Loeys B, De Backer J, Coucke PJ, Dietz HC, Willems PJ, Oostra BA, De Paepe A, Roos-Hesselink JW, Bertoli-Avella AM, Wessels MW. Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. J Med Genet. 2012 Jan;49(1):47-57. doi: 10.1136/jmedgenet-2011-100382.
- Wischmeijer A, Van Laer L, Tortora G, Bolar NA, Van Camp G, Fransen E, Peeters N, di Bartolomeo R, Pacini D, Gargiulo G, Turci S, Bonvicini M, Mariucci E, Lovato L, Brusori S, Ritelli M, Colombi M, Garavelli L, Seri M, Loeys BL. Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype. Am J Med Genet A. 2013 May;161A(5):1028-35. doi: 10.1002/ajmg.a.35852. Epub 2013 Mar 29.
Join the conversation
Share your thoughts or experiences with others in our patient communities.
Ask, share, connect.
Browse discussions, ask questions, and share experiences across hundreds of health topics.
Sign up to the Patient newsletter
Your weekly dose of clear, trustworthy health advice - written to help you feel informed, confident and in control.
By subscribing you accept our Privacy Policy. You can unsubscribe at any time. We never sell your data.