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SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)

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]

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Data Correlations | 1,227 studies

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Individual Studies
  • OMIM - Congenital disorder

    score: 100100 | Homo sapiens Homo sapiens | Mutations/Phenotypic   Mutations/Phenotypic

    This study contains curated human phenotype data extracted from OMIM. Additional computational processing and curation of the phenotype data was performed to further organize and group data from related phenotypes into unifying disease categories.

    Source: NextBio Library/Mutation and Phenotypic data

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Thought leaders and organizations working on research involving SIL1.

  • C Peter Verrijzer
  • Lisbeth Tranebjaerg
  • Lisette Mohrmann
  • Anna-Kaisa Anttonen
  • Susan L Ackerman
  • National Heart, Lung, and Blood Institute (NHLBI)
  • University of Helsinki
  • Universität des Saarlandes
  • Erasmus University Medical Center
  • Jackson Laboratory
  • Aachen University of Technology

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