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GDF6 gene
URL of this page: https://medlineplus.gov/genetics/gene/gdf6/

GDF6 gene

growth differentiation factor 6

Normal Function

The GDF6 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 GDF6 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. The GDF6 protein is necessary for the formation of bones and joints in the limbs, skull, spine, chest, and ribs. 

The GDF6 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. The GDF6 protein likely plays a role in the survival of specialized cells within the retina that detect light and color (photoreceptor cells).

Health Conditions Related to Genetic Changes

Klippel-Feil syndrome

Variants (also called mutations) in the GDF6 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 GDF6 gene variants that cause Klippel-Feil syndrome result in the substitution of one protein building block (amino acid) for another in the GDF6 protein. This reduces the amount of normal GDF6 protein in cells. Although the GDF6 protein is involved in bone growth and the formation of vertebrae, 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

Leber congenital amaurosis

MedlinePlus Genetics provides information about Leber congenital amaurosis

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Anophthalmia/Microphthalmia

MedlinePlus Genetics provides information about Anophthalmia/Microphthalmia

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Other disorders

Variants in the GDF6 gene can also cause multiple synostoses syndrome 4, a condition that is characterized by hearing loss and the fusion of the bones in the hands and feet. The GDF6 variants that cause this condition typically lead to the substitution of one amino acid for another in the GDF6 protein. It is unclear how changes in the GDF6 gene can affect different parts of the body. 

Other Names for This Gene

  • BMP13
  • CDMP2
  • GDF-6
  • growth/differentiation factor 6
  • KFS
  • KFS1
  • SCDO4
  • SGM1

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

  • Asai-Coakwell M, March L, Dai XH, Duval M, Lopez I, French CR, Famulski J, De Baere E, Francis PJ, Sundaresan P, Sauve Y, Koenekoop RK, Berry FB, Allison WT, Waskiewicz AJ, Lehmann OJ. Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. Hum Mol Genet. 2013 Apr 1;22(7):1432-42. doi: 10.1093/hmg/dds560. Epub 2013 Jan 9. Citation on PubMed
  • 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
  • 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
  • Portnoy ME, McDermott KJ, Antonellis A, Margulies EH, Prasad AB; NISC Comparative Sequencing Program; Kingsley DM, Green ED, Mortlock DP. Detection of potential GDF6 regulatory elements by multispecies sequence comparisons and identification of a skeletal joint enhancer. Genomics. 2005 Sep;86(3):295-305. doi: 10.1016/j.ygeno.2005.05.003. Citation on PubMed
  • Pregizer S, Mortlock DP. Control of BMP gene expression by long-range regulatory elements. Cytokine Growth Factor Rev. 2009 Oct-Dec;20(5-6):509-15. doi: 10.1016/j.cytogfr.2009.10.011. Epub 2009 Nov 8. Citation on PubMed or Free article on PubMed Central
  • Tassabehji M, Fang ZM, Hilton EN, McGaughran J, Zhao Z, de Bock CE, Howard E, Malass M, Donnai D, Diwan A, Manson FD, Murrell D, Clarke RA. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Hum Mutat. 2008 Aug;29(8):1017-27. doi: 10.1002/humu.20741. Citation on PubMed

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.