Gene Symbol | NRL |
Entrez Gene ID | 4901 |
Full Name | neural retina leucine zipper |
Synonyms | D14S46E,NRL-MAF,RP27 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Retinitis pigmentosa 27, 613750 (3); Retinal degeneration, autosomal recessive, clumped pigment type (3) |