RFX2

RFX2 is a gene that encodes a member of the regulatory factor X (RFX) family of transcription factors. These factors are characterized by a winged-helix DNA binding domain and are involved in many processes, including ciliogenesis, embryogenesis, and cellular differentiation.

Function

The RFX2 gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The RFX2 protein is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. It is known to regulate genes involved in ciliogenesis, a process that leads to the formation of cilia, small hair-like structures present on the surface of all mammalian cells.

Clinical Significance

Mutations in the RFX2 gene have been associated with primary ciliary dyskinesia, a rare genetic disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and infertility. Further research is needed to fully understand the role of RFX2 in human health and disease.

Research

Research on RFX2 has focused on its role in ciliogenesis and its potential involvement in disease processes. Studies have shown that RFX2 is essential for the formation of cilia in mammalian cells, and that it regulates the expression of several genes involved in this process.

See Also

• Regulatory factor X
• Ciliogenesis
• Primary ciliary dyskinesia