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Reviewed February 2010
What is the official name of the OFD1 gene?
The official name of this gene is “oral-facial-digital syndrome 1.”
OFD1 is the gene's official symbol. The OFD1 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 OFD1 gene?
The OFD1 gene provides instructions for making a protein whose function is not fully understood. It appears to play a critical role in the early development of many parts of the body, including the brain, face, limbs, and kidneys.
The OFD1 protein is located at the base of cilia, which are finger-like projections that stick out from the surface of cells. Cilia are involved in cell movement and in many different chemical signaling pathways. They play important roles in the development and function of many parts of the body. Researchers suspect that the OFD1 protein is essential for the normal formation of cilia.
Studies suggest that the OFD1 protein may have additional functions. In the earliest stages of development, it appears to be involved in determining the left-right axis (the imaginary line that separates the left and right sides of the body). The OFD1 protein is also found in the nucleus, although its function in this cell structure is unknown.
How are changes in the OFD1 gene related to health conditions?
Genetics Home Reference provides information about Joubert syndrome, which is also associated with changes in the OFD1 gene.
Where is the OFD1 gene located?
Cytogenetic Location: Xp22
Molecular Location on the X chromosome: base pairs 13,715,429 to 13,769,360
The OFD1 gene is located on the short (p) arm of the X chromosome at position 22.
More precisely, the OFD1 gene is located from base pair 13,715,429 to base pair 13,769,360 on the X chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about OFD1?
You and your healthcare professional may find the following resources about OFD1 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 OFD1 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 OFD1?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (11 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.