GNAT2 Antibody – Rabbit Polyclonal

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

Chromosomal Location of Human Ortholog: 1p13.1

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

Molecular Function: GTPase activity; G-protein-coupled receptor binding; GTP 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; retinal cone cell development; visual perception; 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