PRPH2 Gene

peripherin 2

ALIAS SYMBOLS

  • TSPAN22

  • rd2

  • CACD2

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Description

The PRPH2 gene (also known as RDS) provides instructions for making a protein called peripherin 2. This protein plays an important role in normal vision. Peripherin 2 is found in the retina, the light-sensitive tissue that lines the back of the eye. This protein is essential for the normal function of specialized cells called photoreceptors that detect light and color. Within these cells, peripherin 2 is involved in the formation and stability of structures that contain light-sensing pigments.

CHROMOSOME

6


LOCATION

p21.1


LOCUS TYPE

gene with protein product

Phenotypes

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