基因名称(Gene Name)
PANK2 C20orf48
蛋白名称
Pantothenate kinase 2, mitochondrial (hPanK2) (EC 2.7.1.33) (Pantothenic acid kinase 2)
免疫原
Synthesized peptide derived from part region of human protein
特异性
PANK2 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
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, Jul 2008],
功能
catalytic activity:ATP + (R)-pantothenate = ADP + (R)-4'-phosphopantothenate.,caution:In addition to the presence of a second start site in position 124, it is not excluded that the Leu-111 may exceptionally also serve as an alternative initiation codon.,disease:Defects in PANK2 are the cause of hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP) [MIM:607236]. HARP is a rare syndrome with many clinical similarities to PKAN.,disease:Defects in PANK2 are the cause of pantothenate kinase-associated neurodegeneration (PKAN) [MIM:234200]; formerly known as Hallervorden-Spatz syndrome (HSS). PKAN is an autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain. Clinical features include extrapyramidal dysfunction, and a relentlessly progressive course. Atypical PKAN is diagnosed in individuals who may not fit wit
