Description
Product Characteristics: FUNCTION: 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, e.g. NRL and RX, to regulate photoreceptor cell-specific gene transcription. Essential for the maintenance of mammalian photoreceptors Defects in CRX are the cause of Leber congenital amaurosis type 7 (LCA7). Defects in CRX are the cause of cone-rod dystrophy type 2 (CORD2). Defects in CRX are a cause of retinitis pigmentosa (RP) SUBCELLULAR LOCATION: Nucleus TISSUE SPECIFICITY: Retina,Vision,Cone-rod homeobox protein, CRX
Target Information: The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]