Primary Identifier | IPR028575 | Type | Family |
Short Name | Nrl |
description | Maf transcription factors form a distinct family of the basic leucine zipper (bZip) transcription factors. The Maf family is divided into two subclasses, large Mafs (c-maf, mafB, and mafA/L-maf, Nrl) and small Mafs (MafF, MafK and MafG). Both subclasses contain leucine-zipper motifs, which allow homodimerisation as well as heterodimerisation with a variety of other bZip proteins. In contrast to the small Mafs, the large Maf proteins contain a transactivator domain in their amino terminus.Neural retina-specific leucine zipper protein (Nrl) is a member of the Maf family of transcription factors that regulates the expression of rod-specific genes, including rhodopsin [, , ]. Mutations in Nrl cause retinitis pigmentosa 27 (RP27), which is a retinal dystrophy belonging to the group of pigmentary retinopathies [, ], and retinal degeneration autosomal recessive clumped pigment type (RDCP), which is a retinopathy characterised by night blindness since early childhood, consistent with a severe reduction in rod function []. |