BD-PN2829

PANK2 Rabbit Polyclonal Antibody

常规抗体

PANK2 C20orf48

Pantothenate kinase 2, mitochondrial (hPanK2) (EC 2.7.1.33) (Pantothenic acid kinase 2)

WB

Human,Rat,Mouse

1 mg/ml

Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.

80025

Q9BZ23

https://www.uniprot.org/uniprotkb/Q9BZ23/entry

Synthesized peptide derived from part region of human protein

PANK2 Polyclonal Antibody detects endogenous levels of protein.

WB 1:500-2000 ELISA 1:5000-20000

62kD

-20°C/1 year

Polyclonal, Rabbit,IgG

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],

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).

[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 .

Pantothenate and CoA biosynthesis;

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.,

现货

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.