Nrl Rabbit Polyclonal Antibody

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], disease:Defects in NRL are the cause of retinitis pigmentosa type 27 (RP27) [MIM:162080]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP27 inheritance is autosomal dominant., function:Transcription factor which regulates the expression of several rod-specific genes, in cluding RHO and PDE6B., online information:Retina International's Scientific Newsletter, similarity:Belongs to the bZIP family., similarity:Contains 1 bZIP domain., subunit:Interacts with FIZ1. This interaction represses transactivation., tissue specificity:Neural retina.