Anti-GNAT1

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.GNAT1 (G Protein Subunit Alpha Transducin 1) is a Protein Coding gene. Diseases associated with GNAT1 include Night Blindness, Congenital Stationary, Autosomal Dominant 3 and Night Blindness, Congenital Stationary, Type 1G. Among its related pathways are Phospholipase-C Pathway and Phototransduction. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is GNAT2. Protein function: Functions as signal transducer for the rod photoreceptor RHO. Required for normal RHO-mediated light perception by the retina (PubMed:22190596). Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs), such as the photoreceptor RHO. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP- bound state and an inactive, GDP-bound state. Activated RHO promotes GDP release and GTP binding. Signaling is mediated via downstream effector proteins, such as cGMP-phosphodiesterase. [The UniProt Consortium]