Homeobox A1

Homeobox A1 (HOXA1) is a gene that encodes a transcription factor belonging to the homeobox gene family. These genes are critical in the regulation of developmental processes and play a significant role in embryogenesis.

Function

The HOXA1 gene is part of the HOX gene cluster, which is involved in the patterning of the anterior-posterior axis during early embryonic development. The protein encoded by HOXA1 is a DNA-binding transcription factor that regulates the expression of other genes, influencing the development of neural crest cells and the formation of the hindbrain.

Clinical Significance

Mutations in the HOXA1 gene have been associated with Bosley-Salih-Alorainy syndrome, a rare genetic disorder characterized by congenital facial palsy, sensorineural hearing loss, and internal carotid artery anomalies. Additionally, HOXA1 has been implicated in various cancers, where its dysregulation may contribute to tumorigenesis.

Research

Studies have shown that HOXA1 is involved in the regulation of cell proliferation and apoptosis, making it a potential target for cancer therapy. Research is ongoing to better understand the role of HOXA1 in neurodevelopmental disorders and its potential as a biomarker for certain diseases.

See Also

• Homeobox
• Transcription factor
• Embryogenesis
• Neural crest

External Links

• HOXA1 Gene - NCBI
• HOXA1 - Genetics Home Reference