Entrez 1261 | Ensembl ENSG00000144191 | |
 | ||
Aliases CNGA3, ACHM2, CCNC1, CCNCa, CCNCalpha, CNCG3, CNG3, Cyclic nucleotide-gated channel alpha 3, cyclic nucleotide gated channel alpha 3 External IDs MGI: 1341818 HomoloGene: 994 GeneCards: CNGA3 | ||
Cyclic nucleotide-gated cation channel alpha-3 is a protein that in humans is encoded by the CNGA3 gene.
Contents
Function
This gene encodes a member of the cyclic nucleotide-gated cation channel protein family, which is required for normal vision and olfactory signal transduction. Two alternatively-spliced transcripts encoding different isoforms have been described.
Clinical relevance
Variants in this gene have been shown to cause achromatopsia and colour blindness.
References
Cyclic nucleotide-gated channel alpha 3 Wikipedia(Text) CC BY-SA