2024年12月25日 · GNAT1 (G Protein Subunit Alpha Transducin 1) is a Protein Coding gene. Diseases associated with GNAT1 include Night Blindness, Congenital Stationary, Autosomal Dominant 3 and Night Blindness, Congenital Stationary, Type 1G. Among its related pathways are Visual phototransduction and CREB Pathway.

Guanine nucleotide-binding protein G(t) subunit alpha-1 is a protein that in humans is encoded by the GNAT1 gene. [5] Transducin is a 3-subunit guanine nucleotide-binding protein which stimulates the coupling of rhodopsin and cGMP-phosphodiesterase during visual impulses.

转导蛋白是一种 3 亚基鸟嘌呤核苷酸结合蛋白 (G 蛋白) ，可在视觉冲动期间刺激视紫红质和 cGMP-磷酸二酯酶的偶联。 视杆细胞和视锥细胞中的转导蛋白 α 亚基由不同的基因编码。 该基因编码视杆细胞中的 α 亚基。 该基因也在其他细胞中表达，并且与大鼠味觉细胞中的苦味转导有关。 该基因的突变导致常染色体显性先天性静止性夜盲症。 已经鉴定出编码相同蛋白质的多个可变剪接变体。 [RefSeq 提供，2009 年 2 月]

研究者构建了Gnat1/2/3基因敲除小鼠，通过对基因敲除小鼠的支气管平滑肌进行研究，结果显示苦味物质对于基因敲除小鼠MCh引起的胞内钙离子浓度增加的抑制作用明显减弱。

Genes are classified into six different categories (enriched, group enriched, enhanced, low specificity and not detected) according to their RNA expression levels across the panel of cell lines.

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 …

2024年6月17日 · Clinical resource with information about GNAT1, Congenital stationary night blindness 1G, Congenital stationary night blindness autosomal dominant 3, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

This is the first report of a patient homozygous for a complete loss-of-function GNAT1 mutation. The clinical data from this patient provide definitive evidence of retinitis pigmentosa with late onset in addition to the lifelong night-blindness that would be …

2013年11月1日 · The GNAT1 gene provides instructions for making a protein called alpha (α)-transducin. This protein is one part (the alpha subunit) of a protein complex called transducin. There are several versions of transducin made up of different subunits.

Enables G-protein beta/gamma-subunit complex binding activity and GTPase activity. Acts upstream of or within several processes, including cellular response to electrical stimulus; detection of LIGHT stimulus; and eye development. Located in photoreceptor connecting cilium; photoreceptor inner segment; and photoreceptor outer segment.