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Recombinant Human Aspartoacylase (ASPA)

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  • 中文名稱：
    Recombinant Human Aspartoacylase(ASPA)
  • 貨號：
    CSB-YP002223HU
  • 規(guī)格：
    ￥2208
  • 圖片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

產(chǎn)品詳情

  • 純度：
    Greater than 85% as determined by SDS-PAGE.
  • 基因名：
  • Uniprot No.：
  • 別名：
    ACY 2; ACY-2; ACY2; ACY2_HUMAN; Aminoacylase 2; Aminoacylase-2; Aminoacylase2; ASP; ASPA; Aspartoacylase (aminoacylase 2; Canavan disease); Aspartoacylase (Canavan disease); Aspartoacylase; NUR 7; NUR7; OTTMUSP00000006437; RP23-213I10.1; Small lethargic
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Full Length
  • 來源：
    Yeast
  • 分子量：
    39.7 kDa
  • 表達區(qū)域：
    1-313aa
  • 氨基酸序列
    MTSCHIAEEHIQKVAIFGGTHGNELTGVFLVKHWLENGAEIQRTGLEVKPFITNPRAVKKCTRYIDCDLNRIFDLENLGKKMSEDLPYEVRRAQEINHLFGPKDSEDSYDIIFDLHNTTSNMGCTLILEDSRNNFLIQMFHYIKTSLAPLPCYVYLIEHPSLKYATTRSIAKYPVGIEVGPQPQGVLRADILDQMRKMIKHALDFIHHFNEGKEFPPCAIEVYKIIEKVDYPRDENGEIAAIIHPNLQDQDWKPLHPGDPMFLTLDGKTIPLGGDCTVYPVFVNEAAYYEKKEAFAKTTKLTLNAKSIRCCLH
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白標簽：
    N-terminal 10xHis-tagged and C-terminal Myc-tagged
  • 產(chǎn)品提供形式：
    Liquid or 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.
  • 緩沖液：
    Tris-based buffer,50% glycerol
  • 儲存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質(zhì)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.
  • 貨期：
    3-7 business days
  • 注意事項：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

產(chǎn)品評價

靶點詳情

  • 功能：
    Catalyzes the deacetylation of N-acetylaspartic acid (NAA) to produce acetate and L-aspartate. NAA occurs in high concentration in brain and its hydrolysis NAA plays a significant part in the maintenance of intact white matter. In other tissues it act as a scavenger of NAA from body fluids.
  • 基因功能參考文獻：
    1. report of 2 Egyptian sibling patients suspected of Canavan disease (CD); study revealed homozygosity for substitution T530C (Ile177Thr) in exon 4 of the ASPA gene in both sibs; substitution T530C (Ile177Thr) results in a novel missense mutation causing a CD phenotype with severe clinical characteristics PMID: 24036223
    2. Four ASPA missense mutations associated with Canavan disease are structurally characterized. PMID: 25003821
    3. Definitive evidence is presented to show that the recombinantly-expressed human aspartoacylase is not a glycoprotein. PMID: 24632142
    4. This is the first case report of ASPA mutation studies in Canavan disease from Indian subcontinent. PMID: 22878930
    5. a novel mutation Y88X within the aspartoacylase gene in a consanguineous family with an affected child diagnosed as Canavan disease. PMID: 22468686
    6. Human aspartoacylase gene expression was high not only in brain and kidney, but also in lung and liver. PMID: 22750302
    7. Gene ASPA (NM_000049) was undertaken to sequence for mutation analysis. PMID: 22219087
    8. We report on an Italian female patient with Canavan disease due to a missense mutation of the aspartoacylase gene and a 17p13.3 chromosomal microdeletion PMID: 22019069
    9. the ASPA gene was analysed in 22 unrelated non-Jewish patients with Canavan disease, and 24 different mutations were found PMID: 12638939
    10. Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene PMID: 16437572
    11. molecular weight of the purified enzyme is higher than predicted, suggesting the presence of post-translational modifications. Deglycosylation of aspartoacylase or mutation at glycosylation site causes decreased enzyme stability and catalytic activity PMID: 16669630
    12. a green fluorescent protein-human ASPA fusion protein larger than the permissible size for the nuclear pore complex was enzymatically active and showed mixed nuclear-cytoplasmic distribution. PMID: 16935940
    13. The finding that wild-type and Glu178Asp have the same K(m) but different k(cat) values confirms the idea that the carboxylate group contributes importantly to the enzymatic activity of aspartoacylase. PMID: 17027983
    14. the N-terminal domain of aspartoacylase adopts a protein fold similar to that of zinc-dependent hydrolases related to carboxypeptidases A PMID: 17194761
    15. These results show that aspartoacylase is a member of the caboxypeptidase A family and offer novel explanations for most loss-of-function aspartoacylase mutations associated with Canavan Disease. PMID: 17391648
    16. New structure of human aspartoacylase complexed with a catalytic intermediate analogue, N-phosphonomethyl- l-aspartate, supports a carboxypeptidase-type mechanism for hydrolysis of the amide bond of the substrate, N-acetyl- l-aspartate. PMID: 18293939

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  • 相關(guān)疾病：
    Canavan disease (CAND)
  • 亞細胞定位：
    Cytoplasm. Nucleus.
  • 蛋白家族：
    AspA/AstE family, Aspartoacylase subfamily
  • 組織特異性：
    Brain white matter, skeletal muscle, kidney, adrenal glands, lung and liver.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 756

    OMIM: 271900

    KEGG: hsa:443

    STRING: 9606.ENSP00000263080

    UniGene: Hs.171142