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Cone-rod homeobox
Symbols CRX; CORD2; CRD; LCA7; OTX3
External IDs OMIM602225 MGI1194883 HomoloGene467 GeneCards: CRX Gene
RNA expression pattern
PBB GE CRX 217510 at tn.png
More reference expression data
Species Human Mouse
Entrez 1406 12951
Ensembl ENSG00000105392 ENSMUSG00000041578
UniProt O43186 Q543C9
RefSeq (mRNA) NM_000554 NM_007770
RefSeq (protein) NP_000545 NP_031796
Location (UCSC) Chr 19:
53.02 - 53.04 Mb
Chr 7:
15.02 - 15.04 Mb
PubMed search [1] [2]

Cone-rod homeobox protein is a protein that in humans is encoded by the CRX gene.[1][2][3]

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.[3]


  1. ^ Freund CL, Gregory-Evans CY, Furukawa T, Papaioannou M, Looser J, Ploder L, Bellingham J, Ng D, Herbrick JA, Duncan A, Scherer SW, Tsui LC, Loutradis-Anagnostou A, Jacobson SG, Cepko CL, Bhattacharya SS, McInnes RR (Dec 1997). "Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor". Cell 91 (4): 543-53. PMID 9390563.  
  2. ^ Freund CL, Wang QL, Chen S, Muskat BL, Wiles CD, Sheffield VC, Jacobson SG, McInnes RR, Zack DJ, Stone EM (Apr 1998). "De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis". Nat Genet 18 (4): 311-2. doi:10.1038/ng0498-311. PMID 9537410.  
  3. ^ a b "Entrez Gene: CRX cone-rod homeobox".  

Further reading

  • Paunescu K, Preising MN, Janke B, et al. (2007). "Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.". Ophthalmology 114 (7): 1348–1357.e1. doi:10.1016/j.ophtha.2006.10.034. PMID 17320181.  
  • Evans K, Fryer A, Inglehearn C, et al. (1994). "Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion.". Nat. Genet. 6 (2): 210–3. doi:10.1038/ng0294-210. PMID 8162077.  
  • Chen S, Wang QL, Nie Z, et al. (1997). "Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes.". Neuron 19 (5): 1017–30. doi:10.1016/S0896-6273(00)80394-3. PMID 9390516.  
  • Swain PK, Chen S, Wang QL, et al. (1998). "Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.". Neuron 19 (6): 1329–36. doi:10.1016/S0896-6273(00)80423-7. PMID 9427255.  
  • Sohocki MM, Sullivan LS, Mintz-Hittner HA, et al. (1998). "A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.". Am. J. Hum. Genet. 63 (5): 1307–15. doi:10.1086/302101. PMID 9792858.  
  • Swaroop A, Wang QL, Wu W, et al. (1999). "Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function.". Hum. Mol. Genet. 8 (2): 299–305. doi:10.1093/hmg/8.2.299. PMID 9931337.  
  • Bessant DA, Payne AM, Mitton KP, et al. (1999). "A mutation in NRL is associated with autosomal dominant retinitis pigmentosa.". Nat. Genet. 21 (4): 355–6. doi:10.1038/7678. PMID 10192380.  
  • Yanagi Y, Masuhiro Y, Mori M, et al. (2000). "p300/CBP acts as a coactivator of the cone-rod homeobox transcription factor.". Biochem. Biophys. Res. Commun. 269 (2): 410–4. doi:10.1006/bbrc.2000.2304. PMID 10708567.  
  • Zhu X, Craft CM (2000). "Modulation of CRX transactivation activity by phosducin isoforms.". Mol. Cell. Biol. 20 (14): 5216–26. doi:10.1128/MCB.20.14.5216-5226.2000. PMID 10866677.  
  • Mitton KP, Swain PK, Chen S, et al. (2000). "The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation.". J. Biol. Chem. 275 (38): 29794–9. doi:10.1074/jbc.M003658200. PMID 10887186.  
  • Bibb LC, Holt JK, Tarttelin EE, et al. (2001). "Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development.". Hum. Mol. Genet. 10 (15): 1571–9. doi:10.1093/hmg/10.15.1571. PMID 11468275.  
  • La Spada AR, Fu YH, Sopher BL, et al. (2001). "Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7.". Neuron 31 (6): 913–27. doi:10.1016/S0896-6273(01)00422-6. PMID 11580893.  
  • Rivolta C, Peck NE, Fulton AB, et al. (2002). "Novel frameshift mutations in CRX associated with Leber congenital amaurosis.". Hum. Mutat. 18 (6): 550–1. doi:10.1002/humu.1243. PMID 11748859.  
  • Koenekoop RK, Loyer M, Dembinska O, Beneish R (2002). "Visual improvement in Leber congenital amaurosis and the CRX genotype.". Ophthalmic Genet. 23 (1): 49–59. doi:10.1076/opge. PMID 11910559.  
  • Chen S, Wang QL, Xu S, et al. (2003). "Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy.". Hum. Mol. Genet. 11 (8): 873–84. doi:10.1093/hmg/11.8.873. PMID 11971869.  
  • Nakamura M, Ito S, Miyake Y (2002). "Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis.". Am. J. Ophthalmol. 134 (3): 465–7. doi:10.1016/S0002-9394(02)01542-8. PMID 12208271.  
  • Lines MA, Hébert M, McTaggart KE, et al. (2002). "Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.". Ophthalmology 109 (10): 1862–70. doi:10.1016/S0161-6420(02)01187-9. PMID 12359607.  
  • Hodges MD, Vieira H, Gregory-Evans K, Gregory-Evans CY (2003). "Characterization of the genomic and transcriptional structure of the CRX gene: substantial differences between human and mouse.". Genomics 80 (5): 531–42. doi:10.1016/S0888-7543(02)96854-0. PMID 12408971.  

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.



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