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Reviewed May 2015
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.
Read more about gene names and symbols on the About page.
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 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 protein is involved in setting up boundaries between bones during skeletal development.
The GDF6 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. The GDF6 protein likely plays a role in the survival of specialized cells within the retina that detect light and color (photoreceptor cells).
How are changes in the GDF6 gene related to health conditions?
Genetics Home Reference provides additional information about these conditions associated with changes in the GDF6 gene:
Where is the GDF6 gene located?
Cytogenetic Location: 8q22.1
Molecular Location on chromosome 8: base pairs 96,142,330 to 96,160,792
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 96,142,330 to base pair 96,160,792 on chromosome 8.
See How do geneticists indicate the location of a gene? 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?
See How are genetic conditions and genes named? in the Handbook.
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 GDF6?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (6 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.