SIL1 Human

SIL1 is an N-linked glycoprotein that functions as a nucleotide exchange factor for another unfolded protein response protein. This means that SIL1 helps in the exchange of nucleotides, which is essential for the proper folding and functioning of proteins within the ER. The protein is composed of amino acids 32-461 and includes a C-terminal His-tag .

Recombinant human SIL1 protein is typically expressed in Escherichia coli (E. coli) and purified using conventional chromatography techniques. The recombinant protein is often used in research to study its function and role in various cellular processes. The purified protein is usually stored in a buffer containing 20 mM Tris-HCl (pH 8.0), 0.1 M NaCl, and 10% glycerol .

Mutations in the SIL1 gene have been associated with Marinesco-Sjögren syndrome, a rare genetic disorder characterized by cerebellar ataxia, cataracts, and muscle weakness. This highlights the importance of SIL1 in maintaining proper cellular function and its potential implications in human health .

Recombinant SIL1 is widely used in research to understand its role in the ER and its involvement in various cellular processes. Studies often focus on its interaction with other proteins and its function in protein folding and stress responses within the ER .