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Validated All-in-One™ qPCR Primer for CRX(NM_000554.6) Search again
Powered by BiozBy default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
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 References into function
- Two patients with Leber congenital amaurosis who carried heterozygously one of two novel frameshift mutations.
- The frameshift mutation in CRX gene in the patient with Leber congenital amaurosis did not cause impairment in vision
- results support the hypothesis that CRX mutations involved in human photoreceptor degeneration act by impairing CRX-mediated transcriptional regulation of the photoreceptor genes
- A novel frameshift mutation was detected in exon III of the CRX retinal homeobox gene.
- both Nrl and Crx are required for full transcriptional activity of the PDE6A gene
- A 615delC mutation in the CRX gene was identified and found to cosegregate with cone-rod dystrophy
- Nr2e3 is a dual-function transcriptional regulator that acts in concert with Crx to promote and maintain the function of rod photoreceptors.
- description of a 2-generation family with a novel mutation in CRX; the resulting phenotype is that of cone-rod dystrophy with variable age at onset and progression
- Transmission of the disease through three generations provides evidence that Lebers congenital amaurosis is transmitted as an autosomal dominant trait.
- authors identified a novel disease causing mutation, c.636delC, in the CRX gene, associated with autosomal dominant cone-rod dystrophy