Aliases for PANK2 Gene
External Ids for PANK2 Gene
Previous HGNC Symbols for PANK2 Gene
Previous GeneCards Identifiers for PANK2 Gene
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]
GeneCards Summary for PANK2 Gene
PANK2 (Pantothenate Kinase 2) is a Protein Coding gene. Diseases associated with PANK2 include Neurodegeneration With Brain Iron Accumulation 1 and Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include pantothenate kinase activity. An important paralog of this gene is PANK1.
UniProtKB/Swiss-Prot for PANK2 Gene
May be the master regulator of the CoA biosynthesis.