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  • Molecular assay reagents intended to identify mutations in the neurodegeneration, pantothenate kinase-associated (PANK2) gene, located at chromosome 20p13, which encodes for the enzyme pantothenate kinase 2 that is active in mitochondria. Pantothenate kinase 2 regulates the formation of Coenzyme A. Mutations at this locus have been identified in patients with pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome) and with HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) syndrome.
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