CRX (gene)

Cone-rod homeobox protein is a protein that in humans is encoded by the CRX gene.[5][6][7]

CRX
Identifiers
AliasesCRX, CORD2, CRD, LCA7, OTX3, cone-rod homeobox
External IDsOMIM: 602225 MGI: 1194883 HomoloGene: 467 GeneCards: CRX
Gene location (Human)
Chr.Chromosome 19 (human)[1]
Band19q13.33Start47,819,779 bp[1]
End47,843,330 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

1406

12951

Ensembl

ENSG00000105392

ENSMUSG00000041578

UniProt

O43186

O54751

RefSeq (mRNA)

NM_000554

NM_001113330
NM_007770

RefSeq (protein)

NP_000545

NP_001106801
NP_031796

Location (UCSC)Chr 19: 47.82 – 47.84 MbChr 7: 15.87 – 15.88 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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's 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.[7]

Evolution

CRX is a divergent duplicate of OTX produced during the 2 rounds of vertebrate whole genome duplication.[8]

In the eutherian mammals, CRX has again duplicated by tandem gene duplication, with six ancestral duplicates, which are collectively referred to as ETCHbox genes.[9]

References

  1. GRCh38: Ensembl release 89: ENSG00000105392 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000041578 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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 (Nov 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. doi:10.1016/S0092-8674(00)80440-7. PMID 9390563. S2CID 5755412.
  6. 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". Nature Genetics. 18 (4): 311–2. doi:10.1038/ng0498-311. PMID 9537410. S2CID 22131800.
  7. "Entrez Gene: CRX cone-rod homeobox".
  8. Germot A, Lecointre G, Plouhinec JL, Le Mentec C, Girardot F, Mazan S (September 2001). "Structural evolution of Otx genes in craniates". Molecular Biology and Evolution. 18 (9): 1668–78. doi:10.1093/oxfordjournals.molbev.a003955. PMID 11504847.
  9. Maeso I, Dunwell TL, Wyatt CD, Marlétaz F, Vető B, Bernal JA, et al. (June 2016). "Evolutionary origin and functional divergence of totipotent cell homeobox genes in eutherian mammals". BMC Biology. 14 (1): 45. doi:10.1186/s12915-016-0267-0. PMC 4904359. PMID 27296695.

Further reading

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

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