disease:Defects in GNAT1 are the cause of congenital stationary night blindness autosomal dominant type 3 (CSNBAD3) [MIM:610444]; also known as congenital stationary night blindness Nougaret type. Congenital stationary night blindness is a non-progressive retinal disorder characterized by impaired night vision.,function: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.,online information:Retina International's Scientific Newsletter,similarity:Belongs to the G-alpha family. G(i/o/t/z) subfamily.,subunit:G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site.,tissue specificity:Rod.,
Cell projection, cilium, photoreceptor outer segment . Membrane ; Peripheral membrane protein . 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. .
Rod photoreceptor cells (PubMed:1614872). Predominantly expressed in the retina followed by the ciliary body, iris and retinal pigment epithelium (PubMed:22190596).
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