Neural retina-specific leucine zipper protein is a protein that in humans is encoded by the NRL gene.[5][6][7]

NRL
Identifiers
AliasesNRL, D14S46E, NRL-MAF, RP27, neural retina leucine zipper
External IDsOMIM: 162080; MGI: 102567; HomoloGene: 4501; GeneCards: NRL; OMA:NRL - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006177
NM_001354768
NM_001354769
NM_001354770

NM_001136074
NM_001271916
NM_001271917
NM_008736

RefSeq (protein)

NP_006168
NP_001341697
NP_001341698
NP_001341699

NP_001129546
NP_001258845
NP_001258846
NP_032762

Location (UCSC)Chr 14: 24.08 – 24.12 MbChr 14: 55.76 – 55.76 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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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.[7]

See also

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References

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  1. ^ a b c ENSG00000285493 GRCh38: Ensembl release 89: ENSG00000129535, ENSG00000285493Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040632Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Yang-Feng TL, Swaroop A (Oct 1992). "Neural retina-specific leucine zipper gene NRL (D14S46E) maps to human chromosome 14q11.1-q11.2" (PDF). Genomics. 14 (2): 491–2. doi:10.1016/S0888-7543(05)80248-4. hdl:2027.42/29820. PMID 1427865.
  6. ^ 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". Nature Genetics. 21 (4): 355–6. doi:10.1038/7678. PMID 10192380. S2CID 28621258.
  7. ^ a b "Entrez Gene: NRL neural retina leucine zipper".

Further reading

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