商品分类:多克隆抗体
产品概述: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.
来源:Goat
存储溶液: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.
特异性:Human
别名:Nucleotide exchange factor SIL1, BiP-associated protein, BAP, SIL1
简单描述:Goat Polyclonal Goat Anti-BAP / SIL1 Antibody. Validated for use in WB, E.
详情:FunctionRequired for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5.Cellular_LocationEndoplasmic reticulum lumenTissue_LocationHighly expressed in tissues which produce large amounts of secreted proteins such as kidney, liver and placenta. Also expressed in colon, heart, lung, ovary, pancreas, peripheral leukocyte, prostate, spleen and thymus. Expressed at low levels throughout the brain.
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