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CRX cone-rod homeobox [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000554 Homo sapiens cone-rod homeobox (CRX), mRNA. GenEZ ORF Cloning On-demand $449.00 14

*Business Day

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Gene Symbol CRX
Entrez Gene ID 1406
Full Name cone-rod homeobox
Synonyms CORD2, CRD, LCA7, OTX3
General protein information
Preferred Names
cone-rod homeobox protein
Names
cone-rod homeobox protein
orthodenticle homeobox 3
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

19

19q13.3

Summary 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. [provided by RefSeq, Jul 2008].
Disorder

MIM: 602225

Cone-rod retinal dystrophy-2, 120970 (3); Leber congenital

mRNA Protein Product Sequence Price Select
NM_000554, 189095267 NP_000545, 4557489 cone-rod homeobox protein ORF Sequence $300.00
Homo sapiens (human)CRXNP_000545.1
Pan troglodytes (chimpanzee)CRXXP_524319.3
Macaca mulatta (Rhesus monkey)CRXXP_001113415.2
Canis lupus familiaris (dog)CRXNP_001003049.1
Bos taurus (cattle)CRXNP_776329.1
Mus musculus (house mouse)CrxNP_001106801.1
Rattus norvegicus (Norway rat)CrxNP_068627.1
Process
IDNameEvidence
GO:0006351transcription, DNA-templatedIEA
GO:0006355regulation of transcription, DNA-templatedISS
GO:0007601visual perceptionIEA
GO:0007623circadian rhythmIEA
GO:0009887organ morphogenesisTAS
GO:0045944positive regulation of transcription from RNA polymerase II promoterIDA
GO:0046534positive regulation of photoreceptor cell differentiationIEA
GO:0050896response to stimulusIEA
GO:0060041retina development in camera-type eyeIEA
Component
IDNameEvidence
GO:0005634nucleusISS
GO:0005667transcription factor complexIEA
Function
IDNameEvidence
GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA bindingIDA
GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionIDA
GO:0003682chromatin bindingIEA
GO:0003700sequence-specific DNA binding transcription factor activityISS
GO:0035257nuclear hormone receptor bindingISS
GO:0043522leucine zipper domain bindingIPI
GeneCards CRX
UniProt O43186
Vega OTTHUMG00000170610
MIM 602225
Ensembl ENSG00000105392
HGNC 2383
HPRD 03748

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Interactant

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