The CACNA1F gene belongs to a family of genes that provide instructions for making calcium channels. These channels, which transport positively charged calcium atoms (calcium ions) across cell membranes, play a key role in a cell’s ability to generate and transmit electrical signals.
The CACNA1F gene provides instructions for making one part (the alpha-1 subunit) of a calcium channel called CaV1.4. This subunit forms the hole (pore) in the cell membrane through which calcium ions can flow. CaV1.4 channels are found in many types of cells, although they play a particularly important role in a specialized tissue at the back of the eye called the retina. Within the retina, the channels are located in light-detecting cells called photoreceptors. The retina contains two types of photoreceptors: rods and cones. Rods are needed for vision in low light. Cones are needed for vision in bright light, including color vision.
CaV1.4 channels play a critical role in normal vision. Studies suggest they help relay visual signals from rods and cones to other retinal cells called bipolar cells. This signaling is an essential step in the transmission of visual information from the eyes to the brain.
Other Names
CAC1F_HUMAN; Cav1.4; Cav1.4alpha1
Related Genetics Topics
- X-linked congenital stationary night blindness — MedlinePlus Genetics
- Cone-rod dystrophy — MedlinePlus Genetics
Identifiers
- NCBI Gene: 778
- OMIM: 300110
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
