Variants
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GUCY2D Gene

guanylate cyclase 2D, retinal

ALIAS SYMBOLS

  • retGC

  • RETGC-1

  • ROS-GC1

  • CYGD

  • LCA1

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Description

The GUCY2D gene provides instructions for making a protein that plays an essential role in normal vision. This protein is found in the retina, which is the specialized tissue at the back of the eye that detects light and color. Within the retina, the GUCY2D protein is located in light-detecting cells called photoreceptors. The retina contains two types of photoreceptor cells: rods and cones. Rods are needed for vision in low light, while cones are needed for vision in bright light, including color vision.

The GUCY2D protein is involved in a process called phototransduction. When light enters the eye, it stimulates specialized pigments in photoreceptor cells. This stimulation triggers a series of chemical reactions that produce an electrical signal, which is interpreted by the brain as vision. Once photoreceptors have been stimulated by light, they must return to their resting (or "dark") state before they can be stimulated again. The GUCY2D protein is involved in a chemical reaction that helps return photoreceptors to their dark state after light exposure.

CHROMOSOME

17


LOCATION

p13.1


LOCUS TYPE

gene with protein product

VARIANTS

650

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:4689

  • NCBI

    3000

  • OMIM

    600179

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