GUCY2D

GUCY2D is a gene that provides instructions for making an enzyme called guanylate cyclase 2D. This enzyme is found in cells of the retina, the light-sensitive tissue at the back of the eye. Guanylate cyclase 2D is involved in the recovery phase of visual processing, which prepares the cells to respond to light after they have been stimulated.

Function

The GUCY2D gene provides instructions for making an enzyme called guanylate cyclase 2D. This enzyme is found in cells of the retina, the light-sensitive tissue at the back of the eye. Guanylate cyclase 2D is involved in the recovery phase of visual processing, which prepares the cells to respond to light after they have been stimulated.

Clinical significance

Mutations in the GUCY2D gene cause Leber congenital amaurosis (LCA), an inherited retinal degenerative disease characterized by severe loss of vision at birth. A variety of other mutations in this gene are responsible for other, less severe, forms of inherited retinal degeneration.

See also

• Leber congenital amaurosis
• Retina
• Gene

References

GUCY2D Resources
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