Gene: CRX

Alternate names for this Gene: CORD2|CRD|LCA7|OTX3

Gene 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.33

Description of this Gene: cone-rod homeobox

Type of Gene: protein-coding

rs10405809 in CRX gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs104894671 in CRX gene and Cone-Rod Dystrophy 2 PMID 9427255 1997 Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.

PMID 9390563 1997 Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.

PMID 9792858 1998 A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

PMID 10887186 2000 The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation.

rs17272610 in CRX gene and Hormone measurement PMID 21533175 2011 Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms.

rs104894673 in CRX gene and LEBER CONGENITAL AMAUROSIS 7 PMID 21602930 2011 Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

PMID 9792858 1998 A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

PMID 10887186 2000 The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation.

PMID 9931337 1999 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.

PMID 20513135 2010 Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.

rs869312175 in CRX gene and Leber Congenital Amaurosis PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

rs61748436 in CRX gene and Retinitis Pigmentosa PMID 9427255 1997 Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.

PMID 9792858 1998 A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

PMID 11139241 2001 Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

rs10405809 in CRX gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.