Gene: GNAT1

Alternate names for this Gene: CSNB1G|CSNBAD3|GBT1|GNATR

Gene 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.31

Description of this Gene: G protein subunit alpha transducin 1

Type of Gene: protein-coding

rs11716820 in GNAT1 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

rs104893740 in GNAT1 gene and Night Blindness, Congenital Stationary, Autosomal Dominant 3 PMID 17584859 2007 p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness.

PMID 8673138 1996 Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness.