Gene:
pantothenate kinase 2 (Hallervorden-Spatz syndrome)
Gene ID:
203735
Symbol:
PANK2
Species:
1000
Description:
This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing has been observed at this locus, including the use of 4 alternate first exons. Six transcript variants have been identified, encoding four distinct isoforms.