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  • Molecular assay reagents intended to identify mutations in the Niemann-Pick disease, type C2 (NPC2) gene, located at chromosome 14q24.3, which encodes for the protein NPC2 that is located inside lysosomes. The NPC2 protein binds to cholesterol and plays a role in moving cholesterol and certain other lipids (fats) out of the lysosomes to other parts of the cell. Mutations at this locus have been identified in patients with Niemann-Pick disease type C2.
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