PANK2(redirected from C20orf48)
PANK2A gene on chromosome 20p13 that encodes a member of the pantothenate kinase family, which are key enzymes in coenzyme A (CoA) synthesis. PANK2 catalyses the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition; is the only member to be expressed in mitochondria.
PANK2 mutations are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), also known as Hallervorden-Spatz syndrome.
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