產品編號 yb-4006R
英文名稱 Anti-ARSA抗體
中文名稱 芳基硫酸酯酶A抗體
別    名 As 2; As2; ASA; metachromatic leucodystrophy; TISP73; arylsulfatase A; AS A; MLD.
nti-ARSA抗體
說 明 書 0.2ml  
研究領域 免疫學  神經(jīng)生物學  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應 Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, 
產品應用 WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500 （石蠟切片需做抗原修復） 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 47/54kDa
細胞定位 細胞漿 
性    狀 Lyophilized or Liquid
濃    度 1mg/1ml
免 疫 原 KLH conjugated synthetic peptide derived from human ARSA (368-412aa)
亞    型 IgG
純化方法 affinity purified by Protein A
儲 存 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存條件 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.
nti-ARSA抗體
PubMed PubMed
產品介紹 background:
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 ultimay 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

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

nti-ARSA抗體蛋白是存在于微生物細胞膜上的一種*根陰離子泵的水溶性部分。在*根存在的情況下。ArsA具有ATP酶活力。它水解ATP,發(fā)生構象變化.芳基硫酯酶A（ArylsulfataseA， ARSA）的缺陷，使溶酶體內腦硫酯水解受阻，沉積于中樞神經(jīng)系統(tǒng)的白質、周圍神經(jīng)系統(tǒng)及其它內臟組織，導致異染性腦白質營養(yǎng)不良（Metachromatic Leukodystrophy，MLD），他是一種較常見的腦白質營養(yǎng)不良，也是一種zui常見的溶酶體病，為常染色體隱性遺傳。