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Molecular dynamics (MD) simulations showed that the hydrophobic core, which triggers SNARE (显示 NAPA 蛋白) complex formation, is compromised due to the glycine-to-tryptophan substitution in both GOSR2 and Bos1 (显示 EYA1 蛋白).
Mutations in GOSR2 reveal stringent secretory pathway demands of dendritic growth and synaptic integrity.
review of the phenotype/genotype of GOSR2-associated progressive myoclonus epilepsy [review]
The SNAREs(Soluble N-ethylmaleimide-sensitive factor (显示 NSF 蛋白) attachment protein receptors), that regulate both the biogenesis and secretion of multiple lysosome-related organelles(LROs).
Based on the presented phenotype, we would advise movement disorder specialists to consider mutation analysis of GOSR2 in patients with Ramsay Hunt syndrome, especially when they also have areflexia.
A haplotype of the GOSR2 gene is associated with myocardial infarction in Japanese men
Golgi vesicles, presumably with COPI, serve to inhibit intra-Golgi transport by the extraction of GS27 and GS28 (显示 GOSR1 蛋白) from the Golgi cisternae, which blocks the formation of inter-cisternal connections
Single nucleotide polymorphisms in the GOSR2 gene are associated with essential hypertension in Japanese men.
GOSR2 gene mutation is associated with progressive myoclonus epilepsy cases, all of whom came from countries bounding the North Sea (显示 Slc25a1 蛋白), extending to the coastal region of Northern Norway.
A homozygous mutation in GOSR2 (c.430G>T, p.Gly144Trp), was identified in five apparently unrelated families with a clinically distinct progressive myoclonic epilepsy syndrome.
This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. Three transcript variants encoding three different isoforms have been found for this gene.
Golgi SNAP receptor complex member 2
, golgi SNAP receptor complex member 2
, 27 kDa Golgi SNARE protein
, golgi SNARE