PANK2 Antibody – Mouse Monoclonal

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]

PANK2: a pantothenate kinase that catalyzes the first committed step in the biosynthesis of coenzyme A, an essential cofactor in cellular metabolism. PANK2 is predominantly localized in mitochondria in primates. Defects in PANK2 are the cause of pantothenate kinase-associated neurodegeneration (PKAN), an autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain. Three isoforms of the human PANK2, produced by alternative splicing, have been reported.

Protein type: Mitochondrial; Cofactor and Vitamin Metabolism - pantothenate and CoA biosynthesis; EC 2.7.1.33; Kinase, other

Chromosomal Location of Human Ortholog: 20p13

Cellular Component: mitochondrial intermembrane space; cytosol

Molecular Function: pantothenate kinase activity; ATP binding

Biological Process: coenzyme biosynthetic process; coenzyme A biosynthetic process; vitamin metabolic process; regulation of mitochondrial membrane potential; pantothenate metabolic process; aerobic respiration; phosphorylation; spermatid development; water-soluble vitamin metabolic process

Disease: Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration; Neurodegeneration With Brain Iron Accumulation 1