Cyclic nucleotide-gated channel alpha 3
Cyclic nucleotide-gated channel alpha 3 (CNGA3) is a protein that in humans is encoded by the CNGA3 gene. This protein is a subunit of a cyclic nucleotide-gated ion channel that plays a crucial role in the phototransduction pathway of the cone photoreceptor cells in the retina.
Function[edit | edit source]
The CNGA3 protein is an integral membrane protein that forms a voltage-independent ion channel activated by the binding of cyclic nucleotides. This ion channel is a complex composed of a homotetramer or a heterotetramer of different subunits, including the alpha-3 subunit. The CNGA3 subunit can bind cyclic GMP and cyclic AMP, and is involved in the depolarization of photoreceptor cells in the retina.
Clinical significance[edit | edit source]
Mutations in the CNGA3 gene are associated with achromatopsia (ACHM2), a rare congenital disorder characterized by the absence of color vision. Patients with ACHM2 have difficulty distinguishing colors, decreased visual acuity, and increased sensitivity to light.
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