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Official Full Name
cyclic nucleotide gated channel beta 3
This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease.
CNGB3; cyclic nucleotide gated channel beta 3; ACHM3, achromatopsia (rod monochromacy) 3; cyclic nucleotide-gated cation channel beta-3; ACHM1; ACHM3; Achromatopsia (rod monochromacy) 3; CNG channel beta-3; CNGB3_HUMAN; Cone photoreceptor cGMP-gated cation channel beta-subunit; Cone photoreceptor cGMP-gated channel subunit beta; Cyclic nucleotide-gated cation channel modulatory subunit; Cyclic nucleotide-gated channel beta-3; RMCH; RMCH1

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