Aliases for CRX Gene
External Ids for CRX Gene
Previous HGNC Symbols for CRX Gene
Previous GeneCards Identifiers for CRX Gene
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]
GeneCards Summary for CRX Gene
CRX (Cone-Rod Homeobox) is a Protein Coding gene. Diseases associated with CRX include Cone-Rod Dystrophy 2 and Leber Congenital Amaurosis 7. Among its related pathways are Circadian rythm related genes. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is OTX2.
UniProtKB/Swiss-Prot Summary for CRX Gene
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.