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Validated All-in-One™ qPCR Primer for NRL(NM_006177.5) 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
This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases. [provided by RefSeq].
Gene References into function
- six isoforms of NRL (29-35 kDa) are generated by phosphorylation and expressed specifically in the mammalian retina.
- The disease caused by NRL mutations found in this study appears to be more severe
- Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.
- the function of NRL is modulated by its interaction with specific repressor proteins, related to cross-talk between signaling pathways in the retina
- The NRL Ser50Thr mutation is associated with selective loss of scotopic function before age 20 years. With time, however, the photopic system becomes affected, leading to loss of the photopic visual field and of visual acuity.
- both Nrl and Crx are required for full transcriptional activity of the PDE6A gene
- the function of NRL-MTD is to activate transcription by recruiting or stabilizing TBP (and consequently other components of the general transcription complex) at the promoter of target genes
- Mutation analysis of the NRL gene, in patients with Enhanced S Cone Syndrome
- an unusual clinical phenotype in humans with loss-of-function mutations in NRL
- signaling by RA via RA receptors regulates the expression of NRL, providing a framework for delineating early steps in photoreceptor cell fate determination
- Gain-of-function mutations in the NRL gene cause autosomal dominant retinitis pigmentosa[RP] while loss-of-function mutations cause autosomal recessive RP. Differential phosphorylation of NRL fine-tunes its transcriptional regulatory activity.