GNAT2 Antibody – Rabbit

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 cones. [provided by RefSeq, Jul 2008]

G-alpha t2: 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 GNAT2 are the cause of achromatopsia type 4 (ACHM4). Achromatopsia is an autosomal recessively inherited visual disorder that is present from birth and that features the absence of color discrimination. Belongs to the G-alpha family. G(i/o/t/z) subfamily.

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

Chromosomal Location of Human Ortholog: 1p13.1

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

Molecular Function: GTPase activity; GTP binding; G-protein-coupled receptor binding; metal ion binding; G-protein beta/gamma-subunit binding; G-protein coupled photoreceptor activity

Biological Process: G-protein signaling, coupled to cAMP nucleotide second messenger; G-protein coupled receptor protein signaling pathway; elevation of cytosolic calcium ion concentration; visual perception; retinal cone cell development; metabolic process; response to light intensity; phototransduction; detection of light stimulus involved in visual perception; detection of chemical stimulus involved in sensory perception of bitter taste

Disease: Achromatopsia 4