PANK2, Official Symbol PANK2provided by HGNC Official Full Name pantothenate kinase 2provided by HGNC Primary source HGNC:HGNC:15894 See related Ensembl:ENSG00000125779 MIM:606157; AllianceGenome:HGNC:15894 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HSS; HARP; PKAN; NBIA1; C20orf48 Summary This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. 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 acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 4.5), brain (RPKM 4.1) and 25 other tissues See more Orthologs mouse all