cone-rod homeobox protein (CRX, CORD2)
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Function
- binds & transactivates the sequence 5'-TAATC[CA]-3' found upstream of several photoreceptor-specific genes, including the opsin genes
- acts synergistically with other transcription factors, e.g. NRL & RX, to regulate photoreceptor cell-specific gene transcription
- essential for the maintenance of mammalian photoreceptors
- interacts with SCA7 (putative)
- interacts with RAX2
- interacts (via homeobox) with NRL (via leucine-zipper)
Structure
- belongs to the paired homeobox family
- contains 1 homeobox DNA-binding domain
Compartment
Expression
Pathology
- defects in CRX are the cause of
- defects in CRX are a cause of retinitis pigmentosa
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/O43186.html
- ↑ Mutations of the CRX gene; Retina International's scientific newsletter http://www.retina-international.com/sci-news/crxmut.htm
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/CRX
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1406
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1406
- OMIM: https://mirror.omim.org/entry/120970
- OMIM: https://mirror.omim.org/entry/268000
- OMIM: https://mirror.omim.org/entry/602225
- OMIM: https://mirror.omim.org/entry/613829
- UniProt: http://www.uniprot.org/uniprot/O43186.html