Gene Symbol | GNAT1 |
Entrez Gene ID | 2779 |
Full Name | G protein subunit alpha transducin 1 |
Synonyms | CSNB1G,CSNBAD3,GBT1,GNATR |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]. |
Disorder MIM: | |
Disorder Html: | Night blindness, congenital stationary, autosomal dominant 3, 610444 (3); ?Night blindness, congenital stationary, type 1G, 616389 (3) |