CRX (gene)

Cone-rod homeobox, also known as CRX, is a human gene.cite web | title = Entrez Gene: CRX cone-rod homeobox| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1406| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: CRX cone-rod homeobox| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1406| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Paunescu K, Preising MN, Janke B, "et al." |title=Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame. |journal=Ophthalmology |volume=114 |issue= 7 |pages= 1348–1357.e1 |year= 2007 |pmid= 17320181 |doi= 10.1016/j.ophtha.2006.10.034
*cite journal | author=Evans K, Fryer A, Inglehearn C, "et al." |title=Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. |journal=Nat. Genet. |volume=6 |issue= 2 |pages= 210–3 |year= 1994 |pmid= 8162077 |doi= 10.1038/ng0294-210
*cite journal | author=Chen S, Wang QL, Nie Z, "et al." |title=Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes. |journal=Neuron |volume=19 |issue= 5 |pages= 1017–30 |year= 1997 |pmid= 9390516 |doi=
*cite journal | author=Freund CL, Gregory-Evans CY, Furukawa T, "et al." |title=Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. |journal=Cell |volume=91 |issue= 4 |pages= 543–53 |year= 1997 |pmid= 9390563 |doi=
*cite journal | author=Swain PK, Chen S, Wang QL, "et al." |title=Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. |journal=Neuron |volume=19 |issue= 6 |pages= 1329–36 |year= 1998 |pmid= 9427255 |doi=
*cite journal | author=Freund CL, Wang QL, Chen S, "et al." |title=De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. |journal=Nat. Genet. |volume=18 |issue= 4 |pages= 311–2 |year= 1998 |pmid= 9537410 |doi= 10.1038/ng0498-311
*cite journal | author=Sohocki MM, Sullivan LS, Mintz-Hittner HA, "et al." |title=A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. |journal=Am. J. Hum. Genet. |volume=63 |issue= 5 |pages= 1307–15 |year= 1998 |pmid= 9792858 |doi=
*cite journal | author=Swaroop A, Wang QL, Wu W, "et al." |title=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. |journal=Hum. Mol. Genet. |volume=8 |issue= 2 |pages= 299–305 |year= 1999 |pmid= 9931337 |doi=
*cite journal | author=Bessant DA, Payne AM, Mitton KP, "et al." |title=A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. |journal=Nat. Genet. |volume=21 |issue= 4 |pages= 355–6 |year= 1999 |pmid= 10192380 |doi= 10.1038/7678
*cite journal | author=Yanagi Y, Masuhiro Y, Mori M, "et al." |title=p300/CBP acts as a coactivator of the cone-rod homeobox transcription factor. |journal=Biochem. Biophys. Res. Commun. |volume=269 |issue= 2 |pages= 410–4 |year= 2000 |pmid= 10708567 |doi= 10.1006/bbrc.2000.2304
*cite journal | author=Zhu X, Craft CM |title=Modulation of CRX transactivation activity by phosducin isoforms. |journal=Mol. Cell. Biol. |volume=20 |issue= 14 |pages= 5216–26 |year= 2000 |pmid= 10866677 |doi=
*cite journal | author=Mitton KP, Swain PK, Chen S, "et al." |title=The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation. |journal=J. Biol. Chem. |volume=275 |issue= 38 |pages= 29794–9 |year= 2000 |pmid= 10887186 |doi= 10.1074/jbc.M003658200
*cite journal | author=Bibb LC, Holt JK, Tarttelin EE, "et al." |title=Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development. |journal=Hum. Mol. Genet. |volume=10 |issue= 15 |pages= 1571–9 |year= 2001 |pmid= 11468275 |doi=
*cite journal | author=La Spada AR, Fu YH, Sopher BL, "et al." |title=Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. |journal=Neuron |volume=31 |issue= 6 |pages= 913–27 |year= 2001 |pmid= 11580893 |doi=
*cite journal | author=Rivolta C, Peck NE, Fulton AB, "et al." |title=Novel frameshift mutations in CRX associated with Leber congenital amaurosis. |journal=Hum. Mutat. |volume=18 |issue= 6 |pages= 550–1 |year= 2002 |pmid= 11748859 |doi= 10.1002/humu.1243
*cite journal | author=Koenekoop RK, Loyer M, Dembinska O, Beneish R |title=Visual improvement in Leber congenital amaurosis and the CRX genotype. |journal=Ophthalmic Genet. |volume=23 |issue= 1 |pages= 49–59 |year= 2002 |pmid= 11910559 |doi=
*cite journal | author=Chen S, Wang QL, Xu S, "et al." |title=Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy. |journal=Hum. Mol. Genet. |volume=11 |issue= 8 |pages= 873–84 |year= 2003 |pmid= 11971869 |doi=
*cite journal | author=Nakamura M, Ito S, Miyake Y |title=Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis. |journal=Am. J. Ophthalmol. |volume=134 |issue= 3 |pages= 465–7 |year= 2002 |pmid= 12208271 |doi=
*cite journal | author=Lines MA, Hébert M, McTaggart KE, "et al." |title=Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation. |journal=Ophthalmology |volume=109 |issue= 10 |pages= 1862–70 |year= 2002 |pmid= 12359607 |doi=
*cite journal | author=Hodges MD, Vieira H, Gregory-Evans K, Gregory-Evans CY |title=Characterization of the genomic and transcriptional structure of the CRX gene: substantial differences between human and mouse. |journal=Genomics |volume=80 |issue= 5 |pages= 531–42 |year= 2003 |pmid= 12408971 |doi=

External links

*

PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes