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 with the diagnostic criteria of PKAN yet have radiographic or pathologic evidence of increased basal ganglia iron.,enzyme regulation:Regulated by feedback inhibition by CoA and its thioesters.,function:May be the master regulator of the CoA biosynthesis.,miscellaneous:The HSS syndrome has been proposed to be renamed to PKAN because of the unethical activities of Julius Hallervorden and Hugo Spatz during world war II.,pathway:Cofactor biosynthesis; coenzyme A biosynthesis; coenzyme A from pantothenate: step 1/5.,similarity:Belongs to the type II pantothenate kinase family.,tissue specificity:Ubiquitous.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： [Isoform 1]: Mitochondrion . Mitochondrion intermembrane space . Nucleus . Localizes predominantly to the mitochondria and to a lesser extent to the nucleus. Found in both the mitochondria and the nucleus throughout the cell cycle, with the exception of the G2/M phase when it is restricted to mitochdondria. .; [Isoform 2]: Cytoplasm .; [Isoform 3]: Cytoplasm .; [Isoform 4]: Cytoplasm .
组织表达： Expressed in the brain (at protein level) (PubMed:15659606, PubMed:17825826). Ubiquitous (PubMed:11479594). Highly expressed in the testis (PubMed:17825826). Expressed in the umbilical vein endothelial cells (HUVEC) (PubMed:30221726).
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 with the diagnostic criteria of PKAN yet have radiographic or pathologic evidence of increased basal ganglia iron.,enzyme regulation:Regulated by feedback inhibition by CoA and its thioesters.,function:May be the master regulator of the CoA biosynthesis.,miscellaneous:The HSS syndrome has been proposed to be renamed to PKAN because of the unethical activities of Julius Hallervorden and Hugo Spatz during world war II.,pathway:Cofactor biosynthesis; coenzyme A biosynthesis; coenzyme A from pantothenate: step 1/5.,similarity:Belongs to the type II pantothenate kinase family.,tissue specificity:Ubiquitous.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： [Isoform 1]: Mitochondrion . Mitochondrion intermembrane space . Nucleus . Localizes predominantly to the mitochondria and to a lesser extent to the nucleus. Found in both the mitochondria and the nucleus throughout the cell cycle, with the exception of the G2/M phase when it is restricted to mitochdondria. .; [Isoform 2]: Cytoplasm .; [Isoform 3]: Cytoplasm .; [Isoform 4]: Cytoplasm .
组织表达： Expressed in the brain (at protein level) (PubMed:15659606, PubMed:17825826). Ubiquitous (PubMed:11479594). Highly expressed in the testis (PubMed:17825826). Expressed in the umbilical vein endothelial cells (HUVEC) (PubMed:30221726).
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