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Open Access Articles- Top Results for NRL (gene)

NRL (gene)

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Identifiers
SymbolsNRL ; D14S46E; NRL-MAF; RP27
External IDsOMIM162080 MGI102567 HomoloGene4501 GeneCards: NRL Gene
RNA expression pattern
File:PBB GE NRL 206596 s at tn.png
File:PBB GE NRL 206597 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez490118185
EnsemblENSG00000129535ENSMUSG00000040632
UniProtP54845P54846
RefSeq (mRNA)NM_006177NM_001136074
RefSeq (protein)NP_006168NP_001129546
Location (UCSC)Chr 14:
24.55 – 24.58 Mb
Chr 14:
55.52 – 55.52 Mb
PubMed search[1][2]

Neural retina-specific leucine zipper protein is a protein that in humans is encoded by the NRL gene.[1][2][3]

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.[3]

See also

References

  1. ^ Yang-Feng TL, Swaroop A (Dec 1992). "Neural retina-specific leucine zipper gene NRL (D14S46E) maps to human chromosome 14q11.1-q11.2". Genomics 14 (2): 491–2. PMID 1427865. doi:10.1016/S0888-7543(05)80248-4. 
  2. ^ Bessant DA, Payne AM, Mitton KP, Wang QL, Swain PK, Plant C, Bird AC, Zack DJ, Swaroop A, Bhattacharya SS (Apr 1999). "A mutation in NRL is associated with autosomal dominant retinitis pigmentosa". Nat Genet 21 (4): 355–6. PMID 10192380. doi:10.1038/7678. 
  3. ^ a b "Entrez Gene: NRL neural retina leucine zipper". 

Further reading

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External links

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

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