Gene Symbol | SIL1 |
Entrez Gene ID | 64374 |
Full Name | SIL1 nucleotide exchange factor |
Synonyms | BAP,MSS,ULG5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Marinesco-Sjogren syndrome, 248800 (3) |