HOXA3

HOXA3 is a gene that in humans is encoded by the HOXA3 gene. It is part of the Homeobox gene family, which are critical for the proper development and differentiation of cells during embryonic development.

Function

The HOXA3 gene provides instructions for making a protein that plays a crucial role in the development of structures in the head and neck. 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 HOXA3 protein regulates genes involved in the formation of the pharyngeal arches, which are structures in the developing embryo that give rise to many tissues and organs in the head and neck.

Clinical significance

Mutations in the HOXA3 gene have been associated with congenital disorders of the head and neck, including VACTERL association, a condition characterized by multiple abnormalities that occur together more frequently than would be expected by chance alone. These abnormalities can include vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

See also

• Homeobox
• VACTERL association

External links

• HOXA3 at the US National Library of Medicine Medical Subject Headings (MeSH)

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