Gene Symbol | OPN1LW |
Entrez Gene ID | 5956 |
Full Name | opsin 1, long wave sensitive |
Synonyms | CBBM,CBP,COD5,RCP,ROP |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called red cone photopigment or long-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. This gene and the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of partial, protanopic colorblindness. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Colorblindness, protan, 303900 (3); Blue cone monochromacy, 303700 (3) |