Anti-Human CRX Antibody Pair

Product Description: Cone-rod homeobox protein (CRX) is a transcription factor essential for the development and maintenance of photoreceptor cells in the retina, specifically rods and cones, which are critical for vision. Characterized by its homeodomain, CRX binds to specific DNA sequences to regulate genes involved in phototransduction and photoreceptor cell differentiation. Mutations in the CRX gene are associated with various inherited retinal diseases, including retinitis pigmentosa, cone-rod dystrophy, and Leber congenital amaurosis, leading to progressive vision loss. These mutations often result in reduced or dysfunctional CRX protein, impairing the transcriptional regulation necessary for photoreceptor survival and function. The severity of vision impairment can vary significantly among individuals with CRX mutations, indicating the influence of additional genetic or environmental factors. Protein Function: Transcription factor that binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several photoreceptor-specific genes, including the opsin genes. Acts synergistically with other transcription factors, such as NRL, RORB and RAX, to regulate photoreceptor cell-specific gene transcription. Essential for the maintenance of mammalian photoreceptors [The Uniprot Consortium]