RHOXF2B
Delving into the Genetics of Rhox Homeobox Family Member 2B (Rhox2B)
Description
Rhox2B, an intriguing gene located on chromosome 1q23.1, is a member of the Rhox homeobox family. Homeobox genes play a crucial role in embryonic development by regulating the transcription of other genes involved in various biological processes. Rhox2B is no exception, as it is involved in several developmental pathways and diseases.
Associated Diseases
Mutations in the Rhox2B gene have been linked to various congenital anomalies and developmental disorders, including:
- Congenital Chest Wall Deformities: Studies have identified mutations in Rhox2B associated with conditions such as cleft sternum, Poland syndrome, and absent pectoralis major muscle.
- Limb Malformations: Mutations in Rhox2B have been found in individuals with limb abnormalities, including syndactyly (fused fingers or toes) and brachydactyly (short fingers or toes).
- Craniofacial Abnormalities: Some Rhox2B mutations have been linked to craniofacial defects, such as microcephaly (small head size), hypoplasia of the mandible (underdevelopment of the jawbone), and cleft palate.
Did you Know ?
According to the National Institutes of Health (NIH), approximately 1 in every 40,000 individuals is affected by congenital chest wall deformities, which include conditions associated with Rhox2B mutations.