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Genetics Home Reference: your guide to understanding genetic conditions
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GDF6

Reviewed December 2011

What is the official name of the GDF6 gene?

The official name of this gene is “growth differentiation factor 6.”

GDF6 is the gene's official symbol. The GDF6 gene is also known by other names, listed below.

What is the normal function of the GDF6 gene?

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 is involved in regulating 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 are regulators of cell growth and differentiation in both embryonic and adult tissue. The GDF6 protein is necessary for the formation of bones and joints in the limbs, skull, spine, chest, and ribs. The protein is involved in setting up boundaries between bones during skeletal development.

How are changes in the GDF6 gene related to health conditions?

Klippel-Feil syndrome - caused by mutations in the GDF6 gene

A few mutations in the GDF6 gene have been found to cause Klippel-Feil syndrome, a condition characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). GDF6 gene mutations that cause Klippel-Feil syndrome lead to a change in single protein building blocks (amino acids) in the GDF6 protein. These mutations likely lead to a reduction in functional protein. While the GDF6 protein is involved in bone growth and the formation of vertebrae, it is unclear how a shortage in these proteins leads to incomplete separation of the vertebrae, specifically the cervical vertebrae, in people with Klippel-Feil syndrome.

Where is the GDF6 gene located?

Cytogenetic Location: 8q22.1

Molecular Location on chromosome 8: base pairs 96,142,329 to 96,160,791

The GDF6 gene is located on the long (q) arm of chromosome 8 at position 22.1.

The GDF6 gene is located on the long (q) arm of chromosome 8 at position 22.1.

More precisely, the GDF6 gene is located from base pair 96,142,329 to base pair 96,160,791 on chromosome 8.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about GDF6?

You and your healthcare professional may find the following resources about GDF6 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the GDF6 gene or gene products?

  • BMP13
  • CDMP2
  • GDF-6
  • GDF6_HUMAN
  • growth/differentiation factor 6
  • KFS
  • KFS1
  • SCDO4
  • SGM1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding GDF6?

acids ; cartilage ; cell ; differentiation ; embryonic ; gene ; growth factor ; protein ; syndrome ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • OMIM: GROWTH/DIFFERENTIATION FACTOR 6 (http://omim.org/entry/601147)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/392255)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/15979840?dopt=Abstract)
  • 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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19900834?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/18425797?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: December 2011
Published: October 20, 2014