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  4. Recombinant Human Arylsulfatase A (ARSA)

Recombinant Human Arylsulfatase A (ARSA)

  • 货号：
    CSB-YP002141HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP002141HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP002141HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 货号：
    CSB-BP002141HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP002141HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 别名：
    arsA; ARSA_HUMAN; arylsulfatase A; Arylsulfatase A component C; As 2; AS A; As2; ASA; AW212749; C230037L18Rik; Cerebroside-sulfatase; metachromatic leucodystrophy; MGC125207; MLD; OTTHUMP00000196546; OTTHUMP00000196548; TISP73
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length of Mature Protein
  • 表达区域：
    19-507
  • 氨基酸序列
    RP PNIVLIFADD LGYGDLGCYG HPSSTTPNLD QLAAGGLRFT DFYVPVSLCT PSRAALLTGR LPVRMGMYPG VLVPSSRGGL PLEEVTVAEV LAARGYLTGM AGKWHLGVGP EGAFLPPHQG FHRFLGIPYS HDQGPCQNLT CFPPATPCDG GCDQGLVPIP LLANLSVEAQ PPWLPGLEAR YMAFAHDLMA DAQRQDRPFF LYYASHHTHY PQFSGQSFAE RSGRGPFGDS LMELDAAVGT LMTAIGDLGL LEETLVIFTA DNGPETMRMS RGGCSGLLRC GKGTTYEGGV REPALAFWPG HIAPGVTHEL ASSLDLLPTL AALAGAPLPN VTLDGFDLSP LLLGTGKSPR QSLFFYPSYP DEVRGVFAVR TGKYKAHFFT QGSAHSDTTA DPACHASSSL TAHEPPLLYD LSKDPGENYN LLGGVAGATP EVLQALKQLQ LLKAQLDAAV TFGPSQVARG EDPALQICCH PGCTPRPACC HCPDPHA
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Hydrolyzes cerebroside sulfate.
  • 基因功能参考文献：
    1. A novel homozygous missense mutation c.699C>A (p.His231Gln) in exon 4 of ARSA gene was identified in the three metachromatic leukodystrophy patients inherited from their heterozygous parents. PMID: 30083785
    2. The novel p.L113P mutation in a Pakistani family with late infantile MLD has a pathogenic and destructive effect on the protein structure and function of ARSA. PMID: 28799099
    3. siblings exhibited compound heterozygous variants {[c.302G>T]+[c.1344dupC]} in the ARSA gene, and both of the variants have been reported as disease-causing mutations previouslyfa PMID: 27374302
    4. First report of arylsulfatase A pseudodeficiency (ASA-PD) allele and haplotype frequencies in a North African population, reveals relatively high prevalence of the ASA-PD allele in the Tunisian population with an intermediate genetic structure between Africans, Middle-eastern and Europeans most probably linked to the particular geographic location of Tunisia and the several population incursions throughout its history PMID: 26577183
    5. an extensive review of all the ARSA-causative variants published in the literature to date, accounting for a total of 200 ARSA allele types (review) PMID: 26462614
    6. We report three families with Arylsulphatase A partial deficit in which we can find a high recurrence of parkinsonism among the siblings. PMID: 24989669
    7. Data indicate a significant correlation between the mutation of c.622delC(p.His208Metfs*46) in the arylsulfatase A (ARSA) gene and the phenotype OF metachromatic leukodystrophy. PMID: 25297594
    8. Sixteen novel mutations that cause metachromatic leukodystrophy have been identified in the arylsulfatase A gene. PMID: 24001781
    9. Arylsulphatase A activity in human endometrial polyps inversely correlates with aging PMID: 23689179
    10. Studied brain uptake in the rhesus monkey of a fusion protein of arylsulfatase a and a monoclonal antibody against the human insulin receptor. PMID: 23192358
    11. HSPA2 regulates the expression of sperm surface receptors involved in human sperm-oocyte recognition, such as arylsulfatase A and SPAM1. PMID: 23247813
    12. The interaction between SPAM1, ARSA and HSPA2 in a multimeric complex mediating sperm-egg interaction. PMID: 23209833
    13. This is the first report that human adipocytes express functional DAR and ARSA, suggesting a regulatory role for peripheral DA in adipose functions. PMID: 21966540
    14. The purpose was to estimate the birth prevalence of Metachromatic leukodystrophy in Poland by determining population frequency of the common pathogenic ARSA gene mutations and to compare this estimate with epidemiological data. PMID: 21695197
    15. The presence of two most common mutations associated with Arylsulfatase A pseudodeficiency was analyzed in 56 patients with diagnosis of relapsing-remitting multiple sclerosis, by polymerase chain reaction restriction fragment length polymorphism method. PMID: 21648305
    16. cationization of ASA and an increase of the mannose 6-phosphate content of the enzyme may promote blood-to-brain transfer of ASA, thus leading to an improved therapeutic efficacy of enzyme replacement therapy behind the BBB. PMID: 21454621
    17. ARSA mutations in the Indian population were characterized. 4 new variant & 5 pseudodeficiency alleles were found. Protein modeling showed loss of interactions leading to conformation change. PMID: 21167507
    18. case report of missense mutations p.G99D and p.T409I associated with adult-type metachromatic leukodystrophy PMID: 21265945
    19. contribution of mutations to enzyme activity reduction and metachromatic leukodystrophy severity PMID: 11941485
    20. analysis of arylsulfatase A mutations demonstrates a lack of association with Alzheimer-type dementia or Down syndrome PMID: 12459318
    21. the reduced lysosomal half-life of some mutated forms of ARSA is related to deficient octamerization PMID: 12788103
    22. Structures of human arylsulfatase A crystals soaked in solutions containing 4-methylumbelliferyl phosphate and O-phospho-DL-tyrosine have been determined at 2.7- and 3.2-A resolution, respectively. Phosphate and calcium binding sites are identified. PMID: 12888274
    23. Metachromatic leukodystrophy Molecular analysis revealed compound heterozygosity for two novel missense mutations affecting conserved residues in the arylsulphatase A (ASA) sulphatase and carboxyterminal domains, with 89% loss of enzymatic activity. PMID: 15026521
    24. missense mutation in which actual pathogenic effect was splicing-related by disrupting a potential exonic splicing enhancer (ESE) and causing a complete exon 7 skipping PMID: 15375602
    25. Genetic analysis revealed homozygosity for a novel mutation in exon 3 of ARSA (F219V). PMID: 15710861
    26. Enzyme replacement therapy, using ARSA, improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. PMID: 15772092
    27. Homozygote for mutation of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy PMID: 16110195
    28. Adeno-associated virus serotype 5-mediated brain delivery of ARSA is a potentially efficacious therapeutic strategy for metachromatic leukodystrophy patients, especially for those with rapidly progressive form of the disease. PMID: 16311251
    29. Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy PMID: 16678723
    30. decidual levels of arylsulphatase A showed very low values at 41 weeks, which reduced to a half at 42 weeks of gestation PMID: 17329011
    31. Six DNA variants of the arylsulfatase A gene were identified: two novel frameshift mutations (c.179_180dupCA and c.1338dupC), one known nonsense mutation (p.W318X), and three known missense mutations (p.R84Q, p.G99V, and p.R288C) PMID: 17560502
    32. Induction of tolerance to human ARSA in a mouse model of metachromatic leukodystrophy is reported. PMID: 17660863
    33. Safety of ARSA overexpression for gene therapy of metachromatic leukodystrophy was evaluated. PMID: 17845130
    34. R95Q, G144R, H393P, & C521Y cause large structural changes, & are associated with the severe phenotype of mucopolysaccharidosis VI. G137V & Y210C are thought to cause small structural changes in a limited region resulting in the attenuated phenotype. PMID: 18248830
    35. 11 novel ARSA alleles in Italian patients with metachromatic leukodystrophy are described. PMID: 18693274
    36. DNA sequencing revealed two novel disease-causing missense mutations in the arylsulfatase gene in patients with metachromatic leukodystrophy PMID: 18768108
    37. the novel Metachromatic leukodystrophy- causing mutations in the exons 2, 5 and even in 8 of the ARSA gene described here can be classified as severe type 0, leading in homozygosity to the late infantile form Metachromatic leukodystrophy PMID: 19021637
    38. We report on two patients with mental retardation, dysmorphic features and low catalytic activity of arylsulfatase A which is because of were explained, in each patients, by a deletion of 22q13 and, thereby, of one allele of ARSA. PMID: 19054018
    39. Saposin B(Sap B) is not a limiting factor of the coupled Sap B-ASA reaction in mouse kidney cells even if sulfatide has accumulated to unphysiologically high levels PMID: 19224915
    40. characterized eight newly identified ARSA mutations, through lentiviral vector-based expression studies on cell lines and ARSA defective murine fibroblasts. The residual activity associated with the new mutant allele correlates well with the phenotype PMID: 19606494
    41. Multiple alleles in a subject unaffected with metachromatic leucodystrophy PMID: 11333871

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  • 相关疾病：
    Metachromatic leukodystrophy (MLD); Multiple sulfatase deficiency (MSD)
  • 亚细胞定位：
    Endoplasmic reticulum. Lysosome.
  • 蛋白家族：
    Sulfatase family
  • 数据库链接：

    HGNC: 713

    OMIM: 250100

    KEGG: hsa:410

    STRING: 9606.ENSP00000216124

    UniGene: Hs.731715