GNAT2 ist ein Gen, das durch das Symbol GNAT2 kodiert wird. Im Allgemeinen auch bezeichnet als: Guanine nucleotide-binding protein G(t) subunit alpha-2; Transducin alpha-2 chain; GNATC. GNAT2 hat eine Masse von 40.18kDa, eine Aminosäurelänge von 354, und ist an Achromatopsia 4 beteiligt.
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Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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.
Gewebespezifität
Retinal rod outer segment.
Rolle bei Krankheiten
Achromatopsia 4: An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus.
Sequenzähnlichkeiten
Belongs to the G-alpha family. G(i/o/t/z) subfamily.
Zellort
Cell projection > Cilium > Photoreceptor outer segment. Photoreceptor inner segment.
Localizes mainly in the outer segment in the dark-adapted state, whereas is translocated to the inner part of the photoreceptors in the light-adapted state. During dark-adapted conditions, in the presence of UNC119 mislocalizes from the outer segment to the inner part of rod photoreceptors which leads to decreased photoreceptor damage caused by light.
