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

WES Whole Exome Sequencing

Clinical Exome Sequencing