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OPN1MW opsin 1, medium wave sensitive

Gene ID: 2652, updated on 2-Nov-2024
Gene type: protein coding
Also known as: CBD; GCP; GOP; CBBM; COD5; OPN1MW1

Summary

This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of 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 deutanopic colorblindness. [provided by RefSeq, Mar 2009]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Cone monochromatism
MedGen: C0339537OMIM: 303700GeneReviews: Not available
See labs
Deuteranomaly
MedGen: C3887938OMIM: 303800GeneReviews: Not available
See labs

Genomic context

Location:
Xq28
Sequence:
Chromosome: X; NC_000023.11 (154182596..154196861)
Total number of exons:
6

Links

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