HOXA13

HOXA13 is a gene that in humans is encoded by the HOXA13 gene. It is a member of the Homeobox gene family, which are critical for the proper formation and development of the body plan in embryos. The HOXA13 gene is specifically involved in the development of the limbs and the genitourinary system.

Function

The HOXA13 gene provides instructions for making a protein that plays a crucial role in development before birth. This protein 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 HOXA13 protein controls genes involved in the formation of the limbs, the urinary tract, and the reproductive system.

Clinical significance

Mutations in the HOXA13 gene cause Hand-foot-genital syndrome (HFGS), a rare disorder characterized by limb malformations and genitourinary defects. These mutations result in a HOXA13 protein that is likely unstable and quickly broken down, reducing the amount of this protein in the cell. A shortage of HOXA13 protein disrupts normal development, leading to the characteristic features of hand-foot-genital syndrome.

See also

• Homeobox
• Hand-foot-genital syndrome

References

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External links

• HOXA13 at the National Center for Biotechnology Information