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A mutation in SCARB2 is a modifier in Gaucher disease
Arash Velayati1, John DePaolo, Nidhi Gupta
1Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, Maryland 20892-3708, USA.
Human Mutation
|July 29, 2011
Summary
Lysosomal integral membrane protein type 2 (LIMP-2) mutations are linked to myoclonic epilepsy. A novel SCARB2 mutation in a Gaucher disease patient explains discordant phenotypes and suggests LIMP-2 modifies Gaucher disease.
Area of Science:
- Genetics and Molecular Biology
- Neuroscience
- Biochemistry
Background:
- Lysosomal integral membrane protein type 2 (LIMP-2) is crucial for glucocerebrosidase (GCase) lysosomal targeting.
- Gaucher disease (GD) results from GCase deficiency, and myoclonic epilepsy is observed in some GD patients.
- Mutations in the SCARB2 gene, encoding LIMP-2, are associated with inherited myoclonic epilepsy.
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