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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?

oral-facial-digital syndrome - caused by mutations in the OFD1 gene

About 100 mutations in the OFD1 gene have been found in people with oral-facial-digital syndrome type I, which is the most common form of the disorder. These mutations include changes in single DNA building blocks (base pairs) and larger deletions of genetic material from the OFD1 gene. Most of these genetic changes lead to the production of an abnormally short, nonfunctional version of the OFD1 protein. It is unclear how a shortage of functional OFD1 protein leads to the specific features of oral-facial-digital syndrome type I. However, studies suggest that a lack of this protein prevents the normal formation of cilia, which affects the development of many tissues and organs.

other disorders - caused by mutations in the OFD1 gene

Mutations in the OFD1 gene can also cause several other disorders with features that overlap with those of oral-facial-digital syndrome. At least two mutations have been identified in people with Joubert syndrome. This disorder is characterized by particular brain abnormalities, weak muscle tone (hypotonia), delayed development, unusual eye movements, and breathing problems. Another OFD1 gene mutation has been found in a family with a form of X-linked intellectual disability. Affected individuals have had severe intellectual disability, an unusually large head size (macrocephaly), and breathing problems.

The OFD1 mutations responsible for Joubert syndrome and X-linked intellectual disability lead to the production of an abnormally short version of the OFD1 protein. However, studies suggest that these mutations result in a somewhat longer protein than the mutations that cause oral-facial-digital syndrome. This protein may retain some of its usual function in cilia. The abnormal protein probably disrupts the development or function of cilia in some way, although it is unclear how these changes result in the signs and symptoms of Joubert syndrome or X-linked intellectual disability.

Genetics Home Reference provides additional information about these conditions associated with changes in the OFD1 gene:

Where is the OFD1 gene located?

Cytogenetic Location: Xp22

Molecular Location on the X chromosome: base pairs 13,715,423 to 13,771,402

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

The OFD1 gene is located on the short (p) arm of the X chromosome at position 22.

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 13,715,423 to base pair 13,771,402 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?

  • 71-7A
  • CXorf5
  • JBTS10
  • MGC117039
  • MGC117040
  • SGBS2

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?

axis ; cell ; centrosome ; disability ; DNA ; dyskinesia ; gene ; hypotonia ; macrocephaly ; mental retardation ; muscle tone ; mutation ; nucleus ; protein ; syndrome

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.

Reviewed: February 2010
Published: February 1, 2016