Overview

Marinesco–Sjögren syndrome


Show Summary Details

Quick Reference

A disorder characterized by cerebellar ataxia, congenital cataracts, and retarded somatic and mental maturation; caused by disruption of the SIL1 gene that encodes a protein of the endoplasmic reticulum (ER) that is a nucleotide exchange factor for the chaperone (BiP) involved in translocation of secreted proteins into the ER lumen.

Subjects: Medicine and Health.


Reference entries

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.