Homeobox A1
Homeobox A1 (also known as HOXA1) is a gene that in humans is encoded by the HOXA1 gene. It is a member of the homeobox family of genes, which play a crucial role in morphogenesis and cell differentiation during embryonic development.
Function[edit | edit source]
The HOXA1 gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. More specifically, it acts on rhombomere formation and hindbrain development during embryogenesis. Mutations in this gene, or in other homeobox genes, can produce congenital defects due to the role these genes have in controlling developmental processes.
Clinical significance[edit | edit source]
Mutations in the HOXA1 gene have been associated with several disorders. These include Bosley-Salih-Alorainy syndrome and Hodgkin lymphoma, among others. In the case of Bosley-Salih-Alorainy syndrome, mutations in HOXA1 result in defects in the development of the brain and inner ear, leading to hearing loss and facial paralysis. In Hodgkin lymphoma, overexpression of HOXA1 has been observed, suggesting a role in the development of this cancer.
Research[edit | edit source]
Research into the HOXA1 gene and its associated proteins continues to be a significant focus in the field of genetics. Understanding the precise mechanisms by which this gene influences development and contributes to disease can provide valuable insights into human biology and medicine.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- HOXA1 at the National Center for Biotechnology Information
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