Cav1.4

Cav1.4 is a protein that in humans is encoded by the CACNA1F gene. It is a member of the voltage-gated calcium channel family, specifically the L-type calcium channels. These channels play a crucial role in the release of neurotransmitters and hormones, muscle contraction, and the overall functioning of the nervous system.

Function

Cav1.4 is primarily expressed in the retina and plays a significant role in the photoreceptor synaptic transmission. It is involved in the process of converting light into electrical signals, which are then transmitted to the brain. This process is essential for vision.

Clinical significance

Mutations in the CACNA1F gene can lead to several disorders. The most common is Congenital Stationary Night Blindness (CSNB2A), a non-progressive retinal disorder characterized by impaired night vision and decreased visual acuity. Other disorders associated with CACNA1F mutations include Åland Island Eye Disease (AIED), Cone-Rod Dystrophy (CORDX3), and Retinitis Pigmentosa (RP).

See also

• Voltage-gated calcium channel
• Congenital Stationary Night Blindness
• Åland Island Eye Disease
• Cone-Rod Dystrophy
• Retinitis Pigmentosa

References

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