The GNAT2 gene provides instructions for making one part (called the cone-specific alpha subunit) of a protein called transducin. This protein is found in light-detecting (photoreceptor) cells called cones, which are located in a specialized tissue at the back of the eye known as the retina. Cones provide vision in bright light (daylight vision), including color vision. Other photoreceptor cells, called rods, provide vision in low light (night vision).
Transducin plays an essential role in transmitting visual signals from photoreceptor cells in the retina to the brain through a process called phototransduction. Photoreceptors contain special pigments (called photopigments) that absorb light. The photopigments activate transducin, which triggers a series of chemical reactions within the cell. These reactions alter the cell’s electrical charge, ultimately generating a signal that is interpreted by the brain as vision.
Other Names
ACHM4; cone-type transducin alpha subunit; GNAT2_HUMAN; GNATC; guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2; guanine nucleotide binding protein, alpha transducing activity polypeptide 2; transducin alpha-2 chain; transducin, cone-specific, alpha polypeptide
Related Genetics Topics
Identifiers
- NCBI Gene: 2780
- OMIM: 139340
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
