泛酸激酶2抗体

泛酸激酶2抗体

规格：1mg/1ml

英文名： PANK2

别名： C20orf48; HARP; hPANK2; HSS; MGC15053; NBIA1; PANK2; PANK2_HUMAN; Pantothenate kinase 2 (Hallervorden Spatz syndrome); Pantothenate kinase 2; Pantothenic acid kinase 2; PKAN; RP23 387C21.4.

分子量： 57kDa

储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce

克隆类型：Polyclonal

亚型：IgG

纯化方法：affinity purified by Protein A

**原：KLH conjugated synthetic peptide derived from human PANK2

交叉反应：Human, Mouse, Rat, Dog, Pig, Cow, Horse,

细胞定位：细胞浆

泛酸激酶2抗体产品介绍：background: Defects in PANK2 are the cause of neurodegeneration with brain iron accumulation type 1 (NBIA1); also known as pantothenate kinase-associated neurodegeneration (PKAN) or Hallervorden-Spatz syndrome (HSS). It is an autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. Clinical manifestations include progressive muscle spasticity, hyperreflexia, muscle rigidity, dystonia, dysarthria, and intellectual deterioration which progresses to severe dementia over several years. It is clinically classified into classic, atypical, and intermediate phenotypes. Classic forms present with onset in the first decade, rapid progression, loss of independent ambulation within 15 years. Atypical forms have onset in the second decade, slow progression, maintenance of independent ambulation up to 40 years later. Intermediate forms manifest onset in the first decade with slow progression or onset in the second decade with rapid progression. Patients with early onset tend to also develop pigmentary retinopathy, whereas those with later onset tend to also have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI. Defects in PANK2 are the cause of hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP). HARP is a rare syndrome with many clinical similarities to NBIA1. Function: May be the master regulator of the CoA biosynthesis (By similarity). Subcellular Location: Isoform 1: Mitochondrion. Isoform 泛酸激酶2抗体2: Cytoplasm (Potential). Tissue Specificity: Ubiquitous. DISEASE: Defects in PANK2 are the cause of neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]; also known as pantothenate kinase-associated neurodegeneration (PKAN) or Hallervorden-Spatz syndrome (HSS). It is an autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. Clinical manifestations include progressive muscle spasticity, hyperreflexia, muscle rigidity, dystonia, dysarthria, and intellectual deterioration which progresses to severe dementia over several years. It is clinically classified into classic, atypical, and intermediate phenotypes. Classic forms present with onset in the first decade, rapid progression, loss of independent ambulation within 15 years. Atypical forms have onset in the second decade, slow progression, maintenance of independent ambulation up to 40 years later. Intermediate forms manifest onset in the first decade with slow progression or onset泛酸激酶2抗体 in the second decade with rapid progression. Patients with early onset tend to also develop pigmentary retinopathy, whereas those with later onset tend to also have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI. 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 NBIA1. Similarity: Belongs to the type II pantothenate kinase family. Database links: UniProtKB/Swiss-Prot: Q9BZ23.3 Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.

泛酸激酶2抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:50-200 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.

研究领域：肿瘤  细胞生物  **学  神经生物学  信号转导  

储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.

来源： Rabbit

外观： Lyophilized or Liquid

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