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Reviewed May 2015

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.

Read more about gene names and symbols on the About page.

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 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 has also been found to be involved in the development of the eyes, specifically the specialized light-sensitive tissue that lines the back of the eye called the retina.

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

At least four 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) and a variety of other features affecting many parts of the body. GDF3 gene mutations that cause Klippel-Feil syndrome replace single protein building blocks (amino acids) in the GDF3 protein. These mutations likely lead to a reduction in functional protein. Although the GDF3 protein is involved in bone growth, it is unclear how a shortage of this protein leads to incomplete separation of the cervical vertebrae in people with Klippel-Feil syndrome.

Genetics Home Reference provides additional information about these conditions associated with changes in the GDF3 gene:

Where is the GDF3 gene located?

Cytogenetic Location: 12p13.1

Molecular Location on chromosome 12: base pairs 7,689,785 to 7,695,764

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

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 7,689,785 to base pair 7,695,764 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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding GDF3?

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

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (5 links)


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: May 2015
Published: February 8, 2016