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SIL1 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. Additionally we are shipping SIL1 Antibodies (59) and SIL1 Proteins (15) and many more products for this protein.
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These results reveal a novel role for the nucleotide exchange factor SIL1 in pancreatic beta cell function under physiological and disease conditions such as diabetes and the metabolic syndrome.
Two NEFs, Grp170 (show HYOU1 ELISA Kits) and Sil1, trigger toxin release from BiP (show GDF10 ELISA Kits) to enable successful retrotranslocation and clarify the fate of the toxin after it disengages from BiP (show GDF10 ELISA Kits).
This study demonistrated that SIL1 mutation in patient with ataxia (show USP14 ELISA Kits) telangiectasia
The mutations prevent SIL1 from interacting with and regulating HSPA5 (show HSPA5 ELISA Kits), leading to abnormal neuronal morphology and migration.
The study confirms the previous findings of mutations in SIL1 being the major cause of Marinesco-Sjogren syndrome.
The clinical features and two novel SIL1 mutations of four Dutch patients with Marinesco-Sjogren syndrome are described
the very C-terminal residues of SIL1 play a role in its structural integrity rather than its localization.
The patients described here manifested the cardinal (show CARD8 ELISA Kits) features of Marinesco-Sjogren syndrome, but did not exhibit any mutation in the exons and flanking introns of the SIL1 gene.
Some reported cases of Marinesco-Sjogren syndrome without base alterations in the SIL1 gene are caused by deletions rather than locus heterogeneity.
Interactions between Kar2p (show HSPA5 ELISA Kits) and its nucleotide exchange factors Sil1p and Lhs1p are mechanistically distinct
BAP (show PHB2 ELISA Kits) serves as a nucleotide exchange factor for BiP (show GDF10 ELISA Kits)
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.
nucleotide exchange factor SIL1
, BiP-associated protein
, SIL1 homolog, endoplasmic reticulum chaperone