The CNGB3 gene provides instructions for making one part (the beta subunit) of the cyclic nucleotide-gated (CNG) channel. These channels are found exclusively in light-sensing (photoreceptor) cells called cones, which are located in a specialized tissue at the back of the eye (retina). Cones provide color vision and vision in bright light (daytime vision). Other photoreceptor cells, called rods, provide vision in low light (night vision).
CNG channels are openings in the cell membrane that transport positively charged atoms (ions) into cells. The CNG channels in cones remain open in low light, allowing ions to flow in. When light enters the eye, these channels close, stopping the flow of ions. This change in ion transport alters the cone’s electrical charge, which ultimately generates a signal. This signal is sent to the brain, where it combines with other visual information and is interpreted as vision. The process of translating light into an electrical signal is called phototransduction.
Other Names
ACHM3; achromatopsia (rod monochromacy) 3; cyclic nucleotide gated channel beta 3
Related Genetics Topics
Identifiers
- NCBI Gene: 54714
- OMIM: 605080
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
