GNAT1 Antibody – Rabbit Polyclonal

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]

G-alpha t1: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP-phosphodiesterase. Defects in GNAT1 are the cause of congenital stationary night blindness autosomal dominant type 3 (CSNBAD3); also known as congenital stationary night blindness Nougaret type. Congenital stationary night blindness is a non-progressive retinal disorder characterized by impaired night vision. Belongs to the G-alpha family. G(i/o/t/z) subfamily.

Protein type: G protein; G protein, heterotrimeric; G protein, heterotrimeric alpha G((i/o/t/z))

Chromosomal Location of Human Ortholog: 3p21.31

Cellular Component: cytosol; heterotrimeric G-protein complex; membrane; photoreceptor inner segment; photoreceptor outer segment; plasma membrane

Molecular Function: acyl binding; G-protein beta/gamma-subunit binding; G-protein-coupled receptor binding; GDP binding; GTP binding; GTPase activity; protein kinase binding; signal transducer activity

Biological Process: detection of light stimulus involved in visual perception; G-protein signaling, coupled to cAMP nucleotide second messenger; negative regulation of cyclic-nucleotide phosphodiesterase activity; phototransduction, visible light; protein folding; regulation of rhodopsin mediated signaling; response to light stimulus; rhodopsin mediated signaling; sensory perception of umami taste; visual perception

Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 3; Night Blindness, Congenital Stationary, Type 1g