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Positive Samples: Mouse lung
Immunogen sequence: RDKNFSSLHT VFCATGGGAY KFEQDFLTIG DLQLCKLDEL DCLIKGILYI DSVGFNGRSQ CYYFENPADS EKCQKLPFDL KNPYPLLLVN IGSGVSILAV Y
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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仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: hPanK2; pantothenate kinase 2 (Hallervorden-Spatz syndrome); Pantothenate kinase 2, mitochondrial; Pantothenic acid kinase 2
基因别名: 4933409I19Rik; AI642621; Pank2
UniProt ID: (Mouse) Q7M753
Entrez Gene ID: (Mouse) 74450
分子生物学功能: kinase transferase metabolite interconversion enzyme