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Highest antigen sequence indentity to the following orthologs: Mouse (98%), Rat (98%).
This recombinant protein control fragment may be used for blocking experiments with the corresponding antibody, PA5-52563. In IHC/ICC and WB experiments, we recommend a 100x molar excess of the protein fragment control based on the concentration and the molecular weight. Pre-incubate the antibody-protein control fragment mixture for 30 min at room temperature.
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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蛋白别名: Hallervorden-Spatz syndrome; hPanK2; Pantothenate kinase 2, mitochondrial; Pantothenic acid kinase 2
基因别名: C20orf48; HARP; HSS; NBIA1; PANK2; PKAN
UniProt ID: (Human) Q9BZ23
Entrez Gene ID: (Human) 80025