SIL1
SIL1 nucleotide exchange factor
5q31.2
Also known as: BAP, MSS, ULG5
W
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ataxia/recatax.html#sil1
Gene Summary
RefSeq / NCBIThis 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]
External Resources
WUSTL Neuromuscular
Washington University Disease Center
ClinGen
Clinical Genome Resource
G2P
Gene-to-Phenotype (EBI)
GeneReviews
NCBI Expert-Authored Reviews
NCBI Gene
National Center for Biotechnology Information
PubMed
Biomedical Literature
UniProt
Universal Protein Resource
DECIPHER
DatabasE of genomiC varIation and Phenotype in Humans
Gene data compiled from the Washington University Neuromuscular Disease Center, NCBI Gene, and OMIM. For clinical use, always refer to primary sources.