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GDF3 gene
URL of this page: https://medlineplus.gov/genetics/gene/gdf3/

GDF3 gene

growth differentiation factor 3

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.

Health Conditions Related to Genetic Changes

Klippel-Feil syndrome

Variants (also called mutations) in the GDF3 gene have been found to cause Klippel-Feil syndrome, a condition that is characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae) and a variety of other features that affect many parts of the body. Most of the GDF3 gene variants that cause Klippel-Feil syndrome result in the substitution of one protein building block (amino acid) for another in the GDF3 protein. This reduces the amount of normal GDF3 protein in cells. Although the GDF3 protein is involved in bone growth, it is unclear exactly how a shortage of this protein leads to the incomplete separation and fusion of the cervical vertebrae seen in people with Klippel-Feil syndrome.

More About This Health Condition

Coloboma

MedlinePlus Genetics provides information about Coloboma

More About This Health Condition

Anophthalmia/Microphthalmia

MedlinePlus Genetics provides information about Anophthalmia/Microphthalmia

More About This Health Condition

Other Names for This Gene

  • GDF-3
  • growth/differentiation factor 3

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Frikha R. Klippel-Feil syndrome: a review of the literature. Clin Dysmorphol. 2020 Jan;29(1):35-37. doi: 10.1097/MCD.0000000000000301. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed
  • Menger RP, Rayi A, Notarianni C. Klippel Feil Syndrome. 2024 May 11. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from http://www.ncbi.nlm.nih.gov/books/NBK493157/ Citation on PubMed
  • 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. Citation on PubMed

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