Gene: OPN1SW

Alternate names for this Gene: BCP|BOP|CBT

Gene Summary: 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7q32.1

Description of this Gene: opsin 1, short wave sensitive

Type of Gene: protein-coding

Gene: CALU

Alternate names for this Gene: -

Gene Summary: The product of this gene is a calcium-binding protein localized in the endoplasmic reticulum (ER) and it is involved in such ER functions as protein folding and sorting. This protein belongs to a family of multiple EF-hand proteins (CERC) that include reticulocalbin, ERC-55, and Cab45 and the product of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified.

Gene is located in Chromosome: 7

Location in Chromosome : 7q32.1

Description of this Gene: calumenin

Type of Gene: protein-coding

rs104894033 in OPN1SW;CALU gene and Color Blindness, Blue PMID 1386496 1992 Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment.

PMID 23022137 2012 Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities.

PMID 1531728 1992 Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.