SIL1 Antibody – Rabbit Polyclonal

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