NRL Antibody – Rabbit

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]

NRL: Transcription factor which regulates the expression of several rod-specific genes, in cluding RHO and PDE6B. Defects in NRL are the cause of retinitis pigmentosa type 27 (RP27). 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. Defects in NRL are a cause of retinal degeneration autosomal recessive clumped pigment type (RDCP). A retinopathy characterized by night blindness since early childhood, consistent with a severe reduction in rod function. Color vision is normal although there is a relatively enhanced function of short-wavelength-sensitive cones in the macula. Signs of retinal degeneration and clusters of clumped pigment deposits in the peripheral fundus at the level of the retinal pigment epithelium are present (clumped pigmentary retinal degeneration). Belongs to the bZIP family.

Protein type: Transcription factor; DNA-binding

Chromosomal Location of Human Ortholog: 14q11.1-q11.2

Cellular Component: nucleus

Molecular Function: leucine zipper domain binding; protein binding; DNA binding

Biological Process: transcription from RNA polymerase II promoter; retinal rod cell development; visual perception; positive regulation of rhodopsin gene expression; response to stimulus; positive regulation of transcription from RNA polymerase II promoter; regulation of rhodopsin gene expression

Disease: Retinitis Pigmentosa 27