CRX (gene)

CRX
Identifiers
Aliases	CRX, CORD2, CRD, LCA7, OTX3, cone-rod homeobox
External IDs	MGI: 1194883 HomoloGene: 467 GeneCards: CRX
Gene ontology Molecular function • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding • DNA binding • leucine zipper domain binding • protein binding • nuclear hormone receptor binding • sequence-specific DNA binding • RNA polymerase II core promoter proximal region sequence-specific DNA binding • transcription factor activity, sequence-specific DNA binding Cellular component • nucleus Biological process • circadian rhythm • nervous system development • animal organ morphogenesis • positive regulation of transcription from RNA polymerase II promoter • response to stimulus • positive regulation of photoreceptor cell differentiation • transcription, DNA-templated • multicellular organism development • cell differentiation • regulation of transcription, DNA-templated • visual perception • transcription from RNA polymerase II promoter Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1406	12951
Ensembl	ENSG00000105392	ENSMUSG00000041578
UniProt	O43186	O54751
RefSeq (mRNA)	NM_000554	NM_001113330 NM_007770
RefSeq (protein)	NP_000545	NP_001106801.1 NP_031796.1 NP_001106801 NP_031796
Location (UCSC)	Chr 19: 47.82 – 47.84 Mb	Chr 7: 15.87 – 15.88 Mb
PubMed search

1406

12951

ENSG00000105392

ENSMUSG00000041578

O43186

O54751

NM_000554

NM_001113330
NM_007770

NP_000545

NP_001106801.1
NP_031796.1
NP_001106801
NP_031796

Cone-rod homeobox protein is a protein that in humans is encoded by the CRX gene.

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.

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

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