Gene Symbol | CNGB3 |
Entrez Gene ID | 54714 |
Full Name | cyclic nucleotide gated channel beta 3 |
Synonyms | ACHM1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Feb 2010]. |
Disorder MIM: | |
Disorder Html: | Achromatopsia 3, 262300 (3); Macular degeneration, juvenile, 248200 (3) |