Pathways & interactions
Neural retina-specific leucine zipper protein (IPR028575)
Short name: Nrl
Overlapping homologous superfamilies
- Transcription factor Maf family (IPR024874)
- Neural retina-specific leucine zipper protein (IPR028575)
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 [PMID: 11694879, PMID: 20551322, PMID: 22445942]. Mutations in Nrl cause retinitis pigmentosa 27 (RP27), which is a retinal dystrophy belonging to the group of pigmentary retinopathies [PMID: 10192380, PMID: 22334370], 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 [PMID: 15591106].
- PTHR10129:SF24 (PTHR10129:SF24)