CACNA1F

CACNA1F is a gene in humans that encodes the alpha-1F subunit of the voltage-dependent calcium channel. This channel plays a crucial role in the retina's function, particularly in the transmission of signals from photoreceptors to the brain. Mutations in this gene are associated with several eye disorders, including congenital stationary night blindness and Åland Island eye disease.

Function[edit | edit source]

The CACNA1F gene provides instructions for making a protein that forms part of a calcium channel. These channels, which transport positively charged calcium atoms (calcium ions) into cells, are found in many types of cells throughout the body. The protein produced from the CACNA1F gene is found in cells of the retina, which is the light-sensitive tissue at the back of the eye.

Clinical significance[edit | edit source]

Mutations in the CACNA1F gene cause several eye disorders. The most common disorder caused by mutations in this gene is congenital stationary night blindness type 2A. This condition is characterized by an inability to see in low light (night blindness), a decrease in visual acuity, and other vision problems. Mutations in the CACNA1F gene also cause Åland Island eye disease, which is characterized by a variety of eye symptoms including night blindness, a decrease in visual acuity, and color vision defects.

References[edit | edit source]

External links[edit | edit source]

CACNA1F at NCBI
CACNA1F at Genetics Home Reference

CACNA1F Resources
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