Journal
NATURE GENETICS
Volume 37, Issue 12, Pages 1312-1314Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng1678
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SIL1 ( also called BAP) acts as a nucleotide exchange factor for the Hsp70 chaperone BiP ( also called GRP78), which is a key regulator of the main functions of the endoplasmic reticulum. We found nine distinct mutations that would disrupt the SIL1 protein in individuals with Marinesco-Sjogren syndrome, an autosomal recessive cerebellar ataxia complicated by cataracts, developmental delay and myopathy. Identification of SIL1 mutations implicates Marinesco-Sjogren syndrome as a disease of endoplasmic reticulum dysfunction and suggests a role for this organelle in multisystem disorders.
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