分子量:
52085 Da
细胞定位:
Antigen Cellular Localization:Endoplasmic reticulum lumen
形式:
0.5 mg IgG/ml in Tris saline (20mM Tris pH7.3, 150mM NaCl), 0.02% sodium azide, with 0.5% bovine serum albumin
参考文献:
Interactions between Kar2p and its nucleotide exchange factors Sil1p and Lhs1p are mechanistically distinct. Hale SJ, et al. J Biol Chem, 2010 Jul 9. PMID 20430899.Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31. Riazuddin SA, et al. Mol Vis, 2009 May 22. PMID 19471582.Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sj枚gren syndrome. Eriguchi M, et al. J Neurol Sci, 2008 Jul 15. PMID 18395226.Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sj枚gren syndrome. Anttonen AK, et al. Eur J Hum Genet, 2008 Aug. PMID 18285827.A novel mutation in BAP/SIL1 gene causes Marinesco-Sj枚gren syndrome in an extended pedigree. Karim MA, et al. Clin Genet, 2006 Nov. PMID 17026626.
产品概述:
We constantly strive to ensure we provide our customers with the best antibodies. As a result of this work we offer this antibody in purified format. We are in the process of updating our datasheets. If you have any questions regarding this update, please feel free to contact our technical support team.This product is a high quality Goat Anti-BAP / SIL1 antibody.
功能:
Required for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5.
总结:
This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized.
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