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BAP / SIL1 is 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.
Gene Name: | SIL1 nucleotide exchange factor |
Synonyms: | SIL1, BiP-associated protein, BAP, Marinesco-Sjogren syndrome, MSS, ULG5 |
Target Sequences: | NM_022464 NP_071909.1 Q9H173 |
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