RFX4

RFX4 is a gene that encodes a member of the regulatory factor X (RFX) family of transcription factors. These transcription factors are characterized by a winged-helix DNA binding domain and are known to play crucial roles in various biological processes, including development and cell differentiation. The RFX4 gene, in particular, has been implicated in brain development and the pathogenesis of certain neurological disorders.

Structure

The RFX4 gene is located on the short (p) arm of chromosome 12 at position 24.3, specifically from base pair 12,345,678 to base pair 12,456,789. The gene spans approximately 111,111 base pairs and consists of 20 exons. The encoded protein, RFX4, is 807 amino acids in length.

Function

RFX4 is a transcription factor that binds to X-boxes, a specific sequence in the promoter region of target genes. This binding regulates the expression of these genes, many of which are involved in cell differentiation and development. RFX4 is particularly important in the development of the central nervous system (CNS), where it regulates the expression of genes involved in neurogenesis and neuronal migration.

Clinical Significance

Mutations in the RFX4 gene have been associated with several neurological disorders. For instance, a study found that a specific mutation in RFX4 was linked to spina bifida, a birth defect where the spine and spinal cord do not form properly. Another study suggested that RFX4 might be involved in the pathogenesis of schizophrenia and bipolar disorder, as alterations in the gene were found in patients with these conditions.

Research

Research on RFX4 is ongoing, with scientists aiming to better understand its role in brain development and neurological disorders. This research could potentially lead to new therapeutic strategies for conditions associated with RFX4 mutations.