Human SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) ELISA Kit | SIL1 elisa kit
Human Nucleotide exchange factor SIL1, SIL1 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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. [provided by RefSeq, Jul 2008]
Uniprot Description
SIL1: Required for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5. Defects in SIL1 are a cause of Marinesco-Sjoegren syndrome (MSS). MSS is an autosomal recessive multisystem disorder which is characterized by cerebellar ataxia due to cerebellar atrophy, with Purkinje and granule cell loss and myopathy featuring marked muscle replacement with fat and connective tissue. Other cardinal features include bilateral cataracts, hypergonadotrophic hypogonadism and mild to severe mental retardation. Skeletal abnormalities, short stature, dysarthria, strabismus and nystagmus are also frequent findings. Mutational inactivation of this protein may result in ER stress- induced cell death signaling or malfunctioning chaperone machineries that mishandle client proteins which are critical for the organs targeted in MSS. Belongs to the SIL1 family.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 5q31
Cellular Component: extracellular space; endoplasmic reticulum; endoplasmic reticulum lumen
Molecular Function: unfolded protein binding
Biological Process: intracellular protein transport; protein folding
Disease: Marinesco-sjogren Syndrome
Research Articles on SIL1
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Product Notes
The Human SIL1 sil1 (Catalog #AAA9321320) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9321320 ELISA Kit recognizes Human SIL1. It is sometimes possible for the material contained within the vial of "SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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