GOSR2 Antibody

1. Recessive mutations in TRAPPC11 and GOSR2 are associated with congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan. PMID: 29855340
2. Molecular dynamics (MD) simulations showed that the hydrophobic core, which triggers SNARE complex formation, is compromised due to the glycine-to-tryptophan substitution in both GOSR2 and Bos1. PMID: 28982678
3. Mutations in GOSR2 reveal stringent secretory pathway demands of dendritic growth and synaptic integrity. PMID: 28978487
4. review of the phenotype/genotype of GOSR2-associated progressive myoclonus epilepsy [review] PMID: 27618868
5. The SNAREs(Soluble N-ethylmaleimide-sensitive factor attachment protein receptors), that regulate both the biogenesis and secretion of multiple lysosome-related organelles(LROs). PMID: 26760525
6. 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. PMID: 24458321
7. A haplotype of the GOSR2 gene is associated with myocardial infarction in Japanese men PMID: 23675987
8. Single nucleotide polymorphisms in the GOSR2 gene are associated with essential hypertension in Japanese men. PMID: 23313660
9. GOSR2 gene mutation is associated with progressive myoclonus epilepsy cases, all of whom came from countries bounding the North Sea, extending to the coastal region of Northern Norway. PMID: 23449775
10. This p.Gly144Trp mutation is equivalent to a loss of function and results in failure of GOSR2 protein to localize to the cis-Golgi. PMID: 21549339
11. 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. PMID: 21549339
12. These studies suggest that membrin recruits Arf-1 to the early Golgi and reveal distinct kinetic cycles for Arf-1 at early and late Golgi determined by different sets of Arf regulators and effectors. PMID: 15781476
13. We found evidence that a SNP in GOSR2 is modestly associated with hypertension in whites from the ARIC study and the WGHS. PMID: 19057520

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HGNC: 4431

OMIM: 604027

KEGG: hsa:9570

STRING: 9606.ENSP00000225567

UniGene: Hs.463278