芳基硫酸酯酶A抗体

芳基硫酸酯酶A抗体英文名称  Anti-ARSA 

中文名称  芳基硫酸酯酶A抗体 

别    名  As 2; As2; ASA; metachromatic leucodystrophy; TISP73; arylsulfatase A; AS A; MLD. 

浓    度  1mg/1ml 

规 格  0.2ml/200μg    

抗体来源  Rabbit  

克隆类型  polyclonal 

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

产品类型  一抗    

研究领域  免疫学 神经生物学  

蛋白分子量  predicted molecular weight: 47/54kDa 

性    状  Lyophilized or Liquid 

免 疫 原  KLH conjugated synthetic peptide derived from human ARSA (368-412aa) 

亚    型  IgG 

纯化方法  affinity purified by Protein A 

储 存 液  0.01M PBS, pH 7.4 with 10 mg/ml BSA and 0.1% Sodium azide 

产品应用   WB=1:100-500  ELISA=1:500-1000  IP=1:20-100  IHC-P=1:100-500  IHC-F=1:100-500  IF=1:100-500 

（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.  

保存条件  Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. 

Important Note  This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. 

芳基硫酸酯酶A抗体产品介绍 The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010].

Function : Hydrolyzes cerebroside sulfate.

Subunit : Homodimer at neutral pH and homooctamer at acidic pH. Exists both as a single chain of 58 kDa (component A) or as a chain of 50 kDa (component B) linked by disulfide bond(s) to a 7 kDa chain (component C). Interacts with SUMF1.

Subcellular Location : Lysosome.

Post-translational modifications : The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. This post-translational modification is severely defective in multiple sulfatase deficiency (MSD).

DISEASE : Defects in ARSA are a cause of leukodystrophy metachromatic (MLD) [MIM:250100]. MLD is a disease due to a lysosomal storage defect. It is characterized by intralysosomal storage of cerebroside-3-sulfate in neural and non-neural tissues, with a diffuse loss of myelin in the central nervous system. Progressive demyelination causes a variety of neurological symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis. Three forms of the disease can be distinguished according to the age at onset: late-infantile, juvenile and adult. 

Arylsulfatase A activity is defective in multiple sulfatase deficiency (MSD) [MIM:272200]. A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. Note=Arylsulfatase A activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1. SUMF1 mutations result in defective post-translational modification of ARSA at residue Cys-69 that is not converted to 3-oxoalanine.

Similarity : Belongs to the sulfatase family.

Database links : UniProtKB/Swiss-Prot: P15289.3

ArsA蛋白是存在于微生物细胞膜上的一种亚砷酸根阴离子泵的水溶性部分。在亚砷酸根存在的情况下。ArsA具有ATP酶活力。它水解ATP,发生构象变化.芳基硫酯酶A（ArylsulfataseA， ARSA）的缺陷，使溶酶体内脑硫酯水解受阻，沉积于中枢神经系统的白质、周围神经系统及其它内脏组织，导致异染性脑白质营养不良（Metachromatic Leukodystrophy，MLD），他是一种较常见的脑白质营养不良，也是一种最常见的溶酶体病，为常染色体隐性遗传。