DLX5

DLX5 is a gene that provides instructions for making a protein that is involved in the development of the bones and other tissues. This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of certain genes.

The DLX5 protein is part of a group of proteins known as homeobox proteins. These proteins play a critical role in the formation of body structures during early embryonic development. The DLX5 protein is involved in the development of the bones of the skull, the inner ear, and the tissues that give rise to teeth.

Mutations in the DLX5 gene have been found to cause a variety of medical conditions, including Split-hand/foot malformation 1 and autosomal dominant deafness-63. These conditions are characterized by malformations of the limbs, hearing loss, and other abnormalities.

Function

The DLX5 gene provides instructions for making a protein that is involved in the development of the bones and other tissues. This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of certain genes.

Clinical significance

Mutations in the DLX5 gene have been found to cause a variety of medical conditions, including Split-hand/foot malformation 1 and autosomal dominant deafness-63. These conditions are characterized by malformations of the limbs, hearing loss, and other abnormalities.

See also

• Homeobox
• Transcription factor
• Gene
• Mutation

External links

• DLX5 at the Genetics Home Reference