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].
Gai, Jiang, Zou, Zheng, Liang, Wu: "Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome." in: Clinica chimica acta; international journal of clinical chemistry, Vol. 458, pp. 1-4, (2016) (PubMed).
Krieger, Roos, Stendel, Claeys, Sonmez, Baudis, Bauer, Bornemann, de Goede, Dufke, Finkel, Goebel, Häussler, Kingston, Kirschner, Medne, Muschke, Rivier, Rudnik-Schöneborn, Spengler, Inzana, Stanzial et al.: "SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. ..." in: Brain : a journal of neurology, Vol. 136, Issue Pt 12, pp. 3634-44, (2013) (PubMed).
Chung, Shen, Hendershot: "BAP, a mammalian BiP-associated protein, is a nucleotide exchange factor that regulates the ATPase activity of BiP." in: The Journal of biological chemistry, Vol. 277, Issue 49, pp. 47557-63, (2002) (PubMed).