HOXA2

HOXA2 is a gene located on chromosome 7 in humans. It belongs to the HOXA cluster, which is a group of homeobox genes. Homeobox genes are known to play crucial roles in embryonic development, particularly in the formation of body plan and organogenesis. Specifically, HOXA2 is involved in the development of the hindbrain and cranial neural crest cells.

During embryonic development, HOXA2 is expressed in a specific region of the hindbrain, contributing to the patterning and segmentation of this crucial part of the central nervous system. It also plays a role in the development of structures derived from cranial neural crest cells, which give rise to various facial bones, cartilage, and parts of the peripheral nervous system. The protein produced by the HOXA2 gene is a transcription factor, meaning it binds to DNA and regulates the expression of other genes.

Mutations or alterations in HOXA2 expression have been linked to certain developmental disorders, primarily affecting the head and neck region. These can include issues with ear development, jaw formation, and the palate. Research into HOXA2's function continues to provide insights into the complex genetic mechanisms that govern early human development and the origins of congenital anomalies. Its precise regulatory network and downstream targets are areas of ongoing scientific investigation.