Aliases for NRL Gene
External Ids for NRL Gene
Previous GeneCards Identifiers for NRL Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for NRL Gene
NRL (Neural Retina Leucine Zipper) is a Protein Coding gene. Diseases associated with NRL include Retinitis Pigmentosa 27 and Enhanced S-Cone Syndrome. Among its related pathways are Tacrolimus/Cyclosporine Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is MAFA.
UniProtKB/Swiss-Prot Summary for NRL Gene
Acts as a transcriptional activator which regulates the expression of several rod-specific genes, including RHO and PDE6B (PubMed:21981118). Functions also as a transcriptional coactivator, stimulating transcription mediated by the transcription factor CRX and NR2E3 (PubMed:17335001). Binds in a sequence-specific manner to the rhodopsin promoter (PubMed:17335001).