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Open Access Articles- Top Results for CRX (gene)

CRX (gene)

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Identifiers
SymbolsCRX ; CORD2; CRD; LCA7; OTX3
External IDsOMIM602225 MGI1194883 HomoloGene467 GeneCards: CRX Gene
RNA expression pattern
File:PBB GE CRX 217510 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez140612951
EnsemblENSG00000105392ENSMUSG00000041578
UniProtO43186O54751
RefSeq (mRNA)NM_000554NM_001113330
RefSeq (protein)NP_000545NP_001106801
Location (UCSC)Chr 19:
48.32 – 48.35 Mb
Chr 7:
15.87 – 15.88 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]

References

  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. doi:10.1016/S0092-8674(00)80440-7. 
  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. PMID 9537410. doi:10.1038/ng0498-311. 
  3. ^ a b "Entrez Gene: CRX cone-rod homeobox". 

Further reading

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External links


Template:Gene-19-stub This article incorporates text from the United States National Library of Medicine, which is in the public domain.