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ASPA Antibody

  • 货号：
    CSB-PA002223GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    P45381
  • 基因名：
  • 别名：
    ACY 2 antibody; ACY-2 antibody; ACY2 antibody; ACY2_HUMAN antibody; Aminoacylase 2 antibody; Aminoacylase-2 antibody; Aminoacylase2 antibody; ASP antibody; ASPA antibody; Aspartoacylase (aminoacylase 2; Canavan disease) antibody; Aspartoacylase (Canavan disease) antibody; Aspartoacylase antibody; NUR 7 antibody; NUR7 antibody; OTTMUSP00000006437 antibody; RP23-213I10.1 antibody; Small lethargic antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human ASPA
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IHC
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 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.
  • 基因功能参考文献：
    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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  • 相关疾病：
    Canavan disease (CAND)
  • 亚细胞定位：
    Cytoplasm. Nucleus.
  • 蛋白家族：
    AspA/AstE family, Aspartoacylase subfamily
  • 组织特异性：
    Brain white matter, skeletal muscle, kidney, adrenal glands, lung and liver.
  • 数据库链接：

    HGNC: 756

    OMIM: 271900

    KEGG: hsa:443

    STRING: 9606.ENSP00000263080

    UniGene: Hs.171142