Q9BZ23
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
pantothenate kinase 2
NCBI Official Synonym Full Names
pantothenate kinase 2
NCBI Official Synonym Symbols
HSS; HARP; PKAN; NBIA1; C20orf48; FLJ17232; MGC15053 [Similar Products]
NCBI Protein Information
pantothenate kinase 2, mitochondrial; hPanK2; OTTHUMP00000030143; OTTHUMP00000030148; pantothenic acid kinase 2; Hallervorden-Spatz syndrome
UniProt Protein Name
Pantothenate kinase 2, mitochondrial
UniProt Synonym Protein Names
Pantothenic acid kinase 2
UniProt Synonym Gene Names
UniProt Entry Name
PANK2_HUMAN
NCBI Summary for PANK2
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]
UniProt Comments for PANK2
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: Cofactor and Vitamin Metabolism - pantothenate and CoA biosynthesis; EC 2.7.1.33; Mitochondrial; 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
Research Articles on PANK2
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Pathways associated with anti-PANK2 antibody
Diseases associated with anti-PANK2 antibody
Organs/Tissues associated with anti-PANK2 antibody
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