growth differentiation factor 3
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The GDF3 gene provides instructions for making a protein that is part of the transforming growth factor beta (TGFβ) superfamily, which is a group of proteins that help control the growth and development of tissues throughout the body. Within the TGFβ superfamily, the GDF3 protein belongs to the bone morphogenetic protein family, which helps regulate the growth and maturation (differentiation) of bone and cartilage. Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. The proteins in this family help regulate cell growth and differentiation both before and after birth. While the GDF3 protein is known to be involved in bone and cartilage development, its exact role is unclear.
Normal function
The GDF3 gene provides instructions for making a protein that is part of the transforming growth factor beta (TGFβ) superfamily, which is a group of proteins that help control the growth and development of tissues throughout the body. Within the TGFβ superfamily, the GDF3 protein belongs to the bone morphogenetic protein family, which helps regulate the growth and maturation (differentiation) of bone and cartilage. Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. The proteins in this family help regulate cell growth and differentiation both before and after birth. While the GDF3 protein is known to be involved in bone and cartilage development, its exact role is unclear.
The GDF3 protein is also involved in the development of the eyes, specifically the specialized light-sensitive tissue that lines the back of the eye called the retina.
Conditions referring to this gene or chromosome
Altri nomi
GDF-3
growth/differentiation factor 3
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Ulteriori letture e riferimenti
- growth differentiation factor 3; MedlinePlus, National Library of Medicine.
- Frikha R. Klippel-Feil syndrome: a review of the literature. Clin Dysmorphol. 2020 Jan;29(1):35-37. doi: 10.1097/MCD.0000000000000301.
- Jae-Min Park A, Nelson SE, Mesfin A. Klippel-Feil Syndrome: Clinical Presentation and Management. JBJS Rev. 2022 Feb 15;10(2). doi: 10.2106/JBJS.RVW.21.00166.
- Levine AJ, Brivanlou AH. GDF3 at the crossroads of TGF-beta signaling. Cell Cycle. 2006 May;5(10):1069-73. doi: 10.4161/cc.5.10.2771. Epub 2006 May 15.
- Levine AJ, Levine ZJ, Brivanlou AH. GDF3 is a BMP inhibitor that can activate Nodal signaling only at very high doses. Dev Biol. 2009 Jan 1;325(1):43-8. doi: 10.1016/j.ydbio.2008.09.006. Epub 2008 Sep 18.
- Litrenta J, Bi AS, Dryer JW. Klippel-Feil Syndrome: Pathogenesis, Diagnosis, and Management. J Am Acad Orthop Surg. 2021 Nov 15;29(22):951-960. doi: 10.5435/JAAOS-D-21-00190.
- Menger RP, Rayi A, Notarianni C. Klippel Feil Syndrome. 2024 May 11. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from http://www.ncbi.nlm.nih.gov/books/NBK493157/
- Ye M, Berry-Wynne KM, Asai-Coakwell M, Sundaresan P, Footz T, French CR, Abitbol M, Fleisch VC, Corbett N, Allison WT, Drummond G, Walter MA, Underhill TM, Waskiewicz AJ, Lehmann OJ. Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. Hum Mol Genet. 2010 Jan 15;19(2):287-98. doi: 10.1093/hmg/ddp496. Epub 2009 Oct 28.
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