Immunogen sequence: SLHTVFCATG GGAYKFEQDF LTIGDLQLCK LDELDCLIKG ILYIDSVGFN GRSQCYYFEN PADSEKCQKL PFDLKNPYPL LLVNIGSGVS ILAVYSKDNY KRVTGT
Highest antigen sequence identity to the following orthologs: Mouse - 98%, Rat - 98%.
Pantothenate kinase is an essential regulatory enzyme in CoA biosynthesis, catalyzing the cytosolic phosphorylation of pantothenate (vitamin B5), N-pantothenoylcysteine, and pantetheine. CoA is the major acyl carrier, playing a central role in intermediary and fatty acid metabolism. In both yeast and fly, each with only 1 pantothenate kinase gene, the null mutant is inviable. Mutations in PANK2 are the cause of pantothenate kinase-associated neurodegeneration (PKAN), formerly known as Hallervorden-Spatz syndrome (HSS). PKAN is an autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain. Mutations in PANK2 are the cause of hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP).
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Protein Aliases: Hallervorden-Spatz syndrome; hPanK2; Pantothenate kinase 2, mitochondrial; Pantothenic acid kinase 2
Gene Aliases: C20orf48; HARP; HSS; NBIA1; PANK2; PKAN
UniProt ID: (Human) Q9BZ23
Entrez Gene ID: (Human) 80025