货号 |
bs-8338R-1 |
品牌 |
|
浓度 |
|
货期 |
现货 |
英文名称 |
Rabbit Anti-PANK2 antibody |
中文名称 |
Rabbit Anti-PANK2 antibody |
研究领域 |
肿瘤,细胞生物,免疫学,神经生物学,信号转导 |
英文别名 |
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. |
反应物种(已验证) |
Human,Mouse |
反应物种(预测) |
Rat,Dog,Pig,Cow,Horse |
产品应用(已验证) |
WB |
产品应用(可推荐) |
IHC,IF,ELISA |
推荐稀释比例 |
WB=1:500-2000,Elisa=1:5000-10000,IHC-P=1:100-500,IHC-F=1:100-500,IF=1:50-200, |
克隆类型 |
多克隆 |
抗体来源 |
Rabbit |
理论分子量 |
57 |
细胞定位 |
细胞浆 |
性状 |
Liquid |
免疫原 |
KLH conjugated synthetic peptide derived from human PANK2 |
抗原表位 |
401-500/570 |
亚型 |
IgG |
纯化方法 |
affinity purified by Protein A |
SUBCELLULAR |
Isoform 1: Mitochondrion. Isoform 2: Cytoplasm (Potential). |
Tissue |
Ubiquitous. |
SIMILARITY |
Belongs to the type II pantothenate kinase family. |
Function |
May be the master regulator of the CoA biosynthesis (By similarity). |
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 neurodeg |
SWISS |
Q9BZ23 |
Gene ID |
80025 |
保存条件 |
Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. |
Important Note |
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
英文介绍 |
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. |