HOXB1

HOXB1 is a gene that in humans is encoded by the HOXB1 gene. It is a member of the Homeobox gene family, which are critical in the formation and development of the body plan of an organism. The HOXB1 gene is specifically involved in the development of the hindbrain, a region of the brain that includes the medulla oblongata and the pons, which control various vital functions such as respiration and heart rate.

Function

The HOXB1 gene provides instructions for making a protein that plays a crucial role in the development of the hindbrain. 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 HOXB1 protein regulates genes involved in the development of the fourth rhombomere, a transiently segmented region of the embryonic hindbrain.

Clinical significance

Mutations in the HOXB1 gene have been associated with several medical conditions. For instance, a rare genetic disorder known as Bosley-Salih-Alorainy syndrome (BSAS) has been linked to mutations in this gene. BSAS is characterized by hearing loss, facial palsy, and abnormalities in the structure of the inner ear.

See also

• Homeobox
• Hindbrain
• Bosley-Salih-Alorainy syndrome

References

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