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).
应用类型
WB
免疫原
This PANK2 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 180-210 amino acids from the Central region of human PANK2.
来源宿主
兔
反应性
人
保存建议
Store at 4˚C for three months and -20˚C, stable for up to one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.