Short-Wave-Sensitive Opsin 1 (OPN1SW) Human Recombinant Protein

This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008]

OPN1SW: Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal. Defects in OPN1SW are the cause of tritan color blindness (CBT). Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.

Protein type: GPCR, family 1; Receptor, GPCR; Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 7q32.1

Cellular Component: integral to plasma membrane; photoreceptor outer segment

Molecular Function: G-protein coupled photoreceptor activity; receptor activity

Biological Process: detection of visible light; G-protein coupled receptor protein signaling pathway; phototransduction; protein-chromophore linkage; retinoid metabolic process; signal transduction; visual perception

Disease: Tritanopia