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This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described.
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Protein Aliases: cng channel; CNG channel alpha-3; CNG-3; CNGalpha2; cone photoreceptor cGMP-gated channel alpha subunit; Cone photoreceptor cGMP-gated channel subunit alpha; Cyclic nucleotide-gated cation channel alpha-3; Cyclic nucleotide-gated channel alpha-3
Gene Aliases: ACHM2; CCNC1; CCNCa; CCNCalpha; CNCG3; CNG3; CNGA3
UniProt ID: (Human) Q16281
Entrez Gene ID: (Human) 1261
Molecular Function: ligand-gated ion channel