HOXD13

HOXD13 is a gene that belongs to the Homeobox gene family. This gene is located on the long (q) arm of chromosome 7 at position 15.2. The HOXD13 gene provides instructions for making a protein that plays a crucial role in the formation of body structures during early embryonic development.

Function

The protein produced by the HOXD13 gene is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that the HOXD13 protein controls the formation of specific body structures by promoting the maturation of cells in the developing limbs, hands, and feet.

Clinical significance

Mutations in the HOXD13 gene can cause Syndactyly, a condition in which fingers or toes are fused together, and Brachydactyly, a condition characterized by unusually short fingers and toes. These conditions are often present from birth and can significantly affect the individual's quality of life.

See also

• Homeobox
• Transcription factor
• Syndactyly
• Brachydactyly

References

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