Gene Symbol | CNGA3 |
Entrez Gene ID | 1261 |
Full Name | cyclic nucleotide gated channel alpha 3 |
Synonyms | ACHM2,CCNC1,CCNCa,CCNCalpha,CNCG3,CNG3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Achromatopsia 2, 216900 (3) |