CRX cone-rod homeobox [Homo sapiens (human)]
| Gene Symbol | CRX |
| Entrez Gene ID | 1406 |
| Full Name | cone-rod homeobox |
| Synonyms | CORD2, CRD, LCA7, OTX3 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
19 19q13.3 |
| Summary | 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]. |
| Disorder | MIM: 602225 Cone-rod retinal dystrophy-2, 120970 (3); Leber congenital |
| mRNA | NM_000554, 189095267 |
| Protein | NP_000545, 4557489 |
| Product | cone-rod homeobox protein |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | CRX | NP_000545.1 |
| Pan troglodytes (chimpanzee) | CRX | XP_524319.2 |
| Canis lupus familiaris (dog) | CRX | NP_001003049.1 |
| Bos taurus (cattle) | CRX | NP_776329.1 |
| Mus musculus (house mouse) | Crx | NP_031796.1 |
| Rattus norvegicus (Norway rat) | Crx | NP_068627.1 |
| ID | Name | Evidence |
| GO:0006351 | transcription, DNA-dependent | NAS |
| GO:0006355 | regulation of transcription, DNA-dependent | IEA |
| GO:0007275 | multicellular organismal development | IEA |
| GO:0007601 | visual perception | IEA |
| GO:0009887 | organ morphogenesis | TAS |
| GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | IEA |
| GO:0050896 | response to stimulus | IEA |
Component
| ID | Name | Evidence |
| GO:0005634 | nucleus | IEA |
| GO:0005667 | transcription factor complex | IEA |
Function
| ID | Name | Evidence |
| GO:0003682 | chromatin binding | IEA |
| GO:0003700 | sequence-specific DNA binding transcription factor activity | IEA |
| GO:0043565 | sequence-specific DNA binding | IEA |
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