SIL1 Antibody – Mouse Monoclonal

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]

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, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 5q31

Cellular Component: extracellular space; endoplasmic reticulum lumen; endoplasmic reticulum

Molecular Function: unfolded protein binding

Biological Process: intracellular protein transport; protein folding

Disease: Marinesco-sjogren Syndrome