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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed December 2011

What is the official name of the GDF3 gene?

The official name of this gene is “growth differentiation factor 3.”

GDF3 is the gene's official symbol. The GDF3 gene is also known by other names, listed below.

What is the normal function of the GDF3 gene?

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 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. While the GDF3 gene is known to be involved in bone and cartilage development, its exact role is unclear.

Does the GDF3 gene share characteristics with other genes?

The GDF3 gene belongs to a family of genes called endogenous ligands (endogenous ligands).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? ( in the Handbook.

How are changes in the GDF3 gene related to health conditions?

Klippel-Feil syndrome - caused by mutations in the GDF3 gene

A few mutations in the GDF3 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). GDF3 gene mutations that cause Klippel-Feil syndrome lead to a change in single protein building blocks (amino acids) in the GDF3 protein. These mutations likely lead to a reduction in functional protein. While the GDF3 protein is involved in bone growth, 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 GDF3 gene located?

Cytogenetic Location: 12p13.1

Molecular Location on chromosome 12: base pairs 7,689,784 to 7,695,763

The GDF3 gene is located on the short (p) arm of chromosome 12 at position 13.1.

The GDF3 gene is located on the short (p) arm of chromosome 12 at position 13.1.

More precisely, the GDF3 gene is located from base pair 7,689,784 to base pair 7,695,763 on chromosome 12.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about GDF3?

You and your healthcare professional may find the following resources about GDF3 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 GDF3 gene or gene products?

  • GDF-3
  • growth/differentiation factor 3

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding GDF3?

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 (


  • Levine AJ, Brivanlou AH. GDF3 at the crossroads of TGF-beta signaling. Cell Cycle. 2006 May;5(10):1069-73. Epub 2006 May 15. Review. (
  • 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. (
  • NCBI Gene (
  • 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. (


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? ( in the Handbook.

Reviewed: December 2011
Published: March 23, 2015