CACNA1F : calcium voltage-gated channel subunit alpha1 F
Description
The CACNA1F (calcium voltage-gated channel subunit alpha1 F) is a protein-coding gene located on chromosome X.
The CACNA1F gene provides instructions for making a part of a calcium channel called CaV1.4, which is found in many types of cells, particularly in the retina. This channel plays a crucial role in vision by helping relay visual signals from light-detecting cells called photoreceptors to other retinal cells, ultimately transmitting visual information to the brain.
The CACNA1F gene encodes a protein that forms the pore of a calcium channel called CaV1.4, which is responsible for transporting calcium ions across cell membranes. This channel is a type of L-type calcium channel, characterized by its long-lasting activation and sensitivity to specific drugs like dihydropyridines, phenylalkylamines, and benzothiazepines. The CaV1.4 channel is crucial for regulating the flow of calcium ions into excitable cells, playing a vital role in various cellular processes, including muscle contraction, neurotransmitter release, gene expression, cell movement, division, and death. It's unique in that it does not undergo calcium-dependent inactivation, unlike other calcium channels.
CACNA1F is also known as AIED, COD3, COD4, CORDX, CORDX3, CSNB2, CSNB2A, CSNBX2, Cav1.4, Cav1.4alpha1, JM8, JMC8, OA2.
Associated Diseases
- Cone rod dystrophy
- Congenital stationary night blindness
- Åland Islands eye disease
- Night blindness, congenital stationary, type 2A
- Cone-Rod dystrophy, X-linked, 3
- Aland island eye disease
- X-linked congenital stationary night blindness
- Cone-rod dystrophy
