Cat. No.: GENE1466

SIL1

Description SIL1 Nucleotide Exchange Factor
Category Protein Coding
GIFtS 40
GC id GC05M138957
Score 6.70
Entrez Gene 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]
GeneCards Summary SIL1 (SIL1 Nucleotide Exchange Factor) is a Protein Coding gene. Diseases associated with SIL1 include Marinesco-Sjogren Syndrome and Apraxia. Gene Ontology (GO) annotations related to this gene include binding and unfolded protein binding. An important paralog of this gene is HSPBP1.
Gene Database GeneCards: The Human Gene Database
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