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Product Name Anti-ARSA/Gold Chinese Name 胶体金标记的芳基硫酸酯酶A抗体 Alias As 2; As2; ASA; metachromatic leucodystrophy; TISP73; arylsulfatase A; AS A; MLD. Research Area immunology Neurobiology Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, ) Applications IEM=1:20-200 ICA=1:20-200 ChIP=1:20-200
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Molecular weight 47/54kDa Form Lyophilized or Liquid Concentration 0.4mg/ml immunogen KLH conjugated synthetic peptide derived from human ARSA (368-412aa) Lsotype IgG Purification affinity purified by Protein A Storage Buffer 0.02M TBS(pH8.2) with 1% BSA, 0.03% Proclin300. Storage Store at 2-8 ºC for 3-6 months. Avoid repeated freeze/thaw cycles. Product Detail 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 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:Entrez Gene: 410 Human
Entrez Gene: 11883 Mouse
Omim: 607574 Human
SwissProt: P15289 Human
SwissProt: P50428 Mouse
Unigene: 88251 Human
Unigene: 620 Mouse
Unigene: 23323 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
ArsA蛋白是存在于微生物The cell membrane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。
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