Neural Retina Leucine Zipper

Alternative Names

NRL
Neural Retina-Specific Gene
D14S46E

Length

36,288 bases

No. of Exons

No. of isoforms

Protein Name

Neural retina-specific leucine zipper protein

Molecular Mass

25940 Da

Amino Acid Count

237

Genomic Location

chr14:24,078,661-24,114,948

Gene Map Locus

14q11-q12

Description

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. [From RefSeq]

Epidemiology in the Arab World

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United Arab Emirates

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_006177.5:c.339C>G	United Arab Emirates	NC_000014.9:g.24082510G>C	Likely Pathogenic, Pathogenic	Likely Pathogenic	Enhanced S-Cone Syndrome	NG_011697.2:g.37505C>G; NM_006177.5:c.339C>G; NP_006168.1:p.Tyr113Ter	1566560531	623368

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=nrl

Contributors

Asha Deepthi: 31.05.2021

Edit History

Pratibha Nair: 15.06.2022
Asha Deepthi: 31.05.2021

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