Biology:NRL (gene)
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Neural retina-specific leucine zipper protein is a protein that in humans is encoded by the NRL gene.[1][2][3]
Function
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 photoreceptor cell development and function. Mutations in this gene have been associated with retinitis pigmentosa and degenerative diseases of the retina.[3]
See also
References
- ↑ "Neural retina-specific leucine zipper gene NRL (D14S46E) maps to human chromosome 14q11.1-q11.2". Genomics 14 (2): 491–2. Oct 1992. doi:10.1016/S0888-7543(05)80248-4. PMID 1427865. https://deepblue.lib.umich.edu/bitstream/2027.42/29820/1/0000166.pdf.
- ↑ "A mutation in NRL is associated with autosomal dominant retinitis pigmentosa". Nature Genetics 21 (4): 355–6. Apr 1999. doi:10.1038/7678. PMID 10192380.
- ↑ 3.0 3.1 "Entrez Gene: NRL neural retina leucine zipper". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4901.
Further reading
- "A conserved retina-specific gene encodes a basic motif/leucine zipper domain". Proceedings of the National Academy of Sciences of the United States of America 89 (1): 266–70. Jan 1992. doi:10.1073/pnas.89.1.266. PMID 1729696. Bibcode: 1992PNAS...89..266S.
- "The bZIP transcription factor Nrl stimulates rhodopsin promoter activity in primary retinal cell cultures". The Journal of Biological Chemistry 271 (47): 29612–8. Nov 1996. doi:10.1074/jbc.271.47.29612. PMID 8939891.
- "Human bZIP transcription factor gene NRL: structure, genomic sequence, and fine linkage mapping at 14q11.2 and negative mutation analysis in patients with retinal degeneration". Genomics 45 (2): 395–401. Oct 1997. doi:10.1006/geno.1997.4964. PMID 9344665.
- "Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes". Neuron 19 (5): 1017–30. Nov 1997. doi:10.1016/S0896-6273(00)80394-3. PMID 9390516.
- "The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation". The Journal of Biological Chemistry 275 (38): 29794–9. Sep 2000. doi:10.1074/jbc.M003658200. PMID 10887186.
- "Multiple phosphorylated isoforms of NRL are expressed in rod photoreceptors". The Journal of Biological Chemistry 276 (39): 36824–30. Sep 2001. doi:10.1074/jbc.M105855200. PMID 11477108.
- "Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa". Archives of Ophthalmology 120 (3): 369–75. Mar 2002. doi:10.1001/archopht.120.3.369. PMID 11879142.
- "Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts". Molecular Vision 8: 196–204. Jun 2002. PMID 12107411.
- "Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene". Molecular Vision 9: 14–7. Jan 2003. PMID 12552256.
- "Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressor". Human Molecular Genetics 12 (4): 365–73. Feb 2003. doi:10.1093/hmg/ddg035. PMID 12566383.
- "Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene". Archives of Ophthalmology 121 (6): 793–802. Jun 2003. doi:10.1001/archopht.121.6.793. PMID 12796249.
- "Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity". The Journal of Biological Chemistry 279 (19): 19800–7. May 2004. doi:10.1074/jbc.M401864200. PMID 15001570.
- "The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein". The Journal of Biological Chemistry 279 (45): 47233–41. Nov 2004. doi:10.1074/jbc.M408298200. PMID 15328344.
- "Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome". Human Mutation 24 (5): 439. Nov 2004. doi:10.1002/humu.9285. PMID 15459973.
- "Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function". Proceedings of the National Academy of Sciences of the United States of America 101 (51): 17819–24. Dec 2004. doi:10.1073/pnas.0408183101. PMID 15591106. Bibcode: 2004PNAS..10117819N.
- "Retinoic acid regulates the expression of photoreceptor transcription factor NRL". The Journal of Biological Chemistry 281 (37): 27327–34. Sep 2006. doi:10.1074/jbc.M605500200. PMID 16854989.
External links
- GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview
- NRL+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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