Gene: NRL

Alternate names for this Gene: D14S46E|NRL-MAF|RP27

Gene 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q11.2-q12

Description of this Gene: neural retina leucine zipper

Type of Gene: protein-coding

rs743271 in NRL gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs104894459 in NRL gene and RETINITIS PIGMENTOSA 27 PMID 11385710 2001 Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa.

PMID 17335001 2007 Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.

PMID 15591106 2004 Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.

PMID 21981118 2012 Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa.

PMID 15994872 2005 Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.

PMID 22334370 2012 Next-generation genetic testing for retinitis pigmentosa.

PMID 11879142 2002 Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa.

PMID 10192380 1999 A mutation in NRL is associated with autosomal dominant retinitis pigmentosa.