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HGSNAT Antibody

  • 货号：
    CSB-PA010330GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q68CP4
  • 基因名：
    HGSNAT
  • 别名：
    HGSNAT antibody; TMEM76 antibody; Heparan-alpha-glucosaminide N-acetyltransferase antibody; EC 2.3.1.78 antibody; Transmembrane protein 76 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse
  • 免疫原：
    Human HGSNAT
  • 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 0.1% 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,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：
    Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase.
  • 基因功能参考文献：
    1. A homozygous variant in HGSNAT identified in two siblings with Kluver-Bucy syndrome and Mucopolysaccharidosis type IIIC. PMID: 27827379
    2. Promoter variants rs4523300 and rs149596192 did not have a measurable impact on HGSNAT enzyme activity in MPS IIIC patients carrying them. PMID: 27452122
    3. Mutation id HGSNAT is associated with non-syndromic retinitis pigmentosa . PMID: 25859010
    4. Identification of novel HGSNAT mutations in Sanfilippo syndrome type C Spanish patients. PMID: 20825431
    5. Characterization of the biosynthesis, processing and kinetic mechanism of heparin acetyl-CoA:alpha-glucosaminide N-acetyltransferase PMID: 21957468
    6. intralysosomal oligomerization and proteolytic cleavage as two steps crucial for functional activation of HGSNAT. PMID: 20650889
    7. Data suggests that mutations may function together to abolish HGSNAT activity. PMID: 20583299
    8. HGSNAT misfolding may have a role in mucopolysaccharidosis III type C PMID: 19823584
    9. gene encoding the enzyme deficient in mucopolysaccharidosis IIIC was identified as HGSNAT; mutational analyses identified a splice-junction mutation that accounted for three mutant alleles, and a single base-pair insertion accounted for the fourth PMID: 16960811
    10. 2.6-cM interval between D8S1051 and D8S1831 and identification of TMEM76, which encodes a 73-kDa protein with predicted multiple transmembrane domains and glycosylation sites, as the gene that causes MPS IIIC when it is mutated PMID: 17033958
    11. mutational analysis of HGSNAT in Italian Sanfilippo C syndrome patients resulted in identification of 9 alleles (8 novel)-- 3 splice-site mutations, 3 frameshift deletions resulting in premature stop codons, 1 nonsense mutation & 2 missense mutations PMID: 17397050
    12. three patients with mucopolysaccharidosis IIIC harbored two different mutations c.525dupT and c.372-2A-->G (Table 1), both of which were previously unreported PMID: 18518886

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  • 相关疾病：
    Mucopolysaccharidosis 3C (MPS3C); Retinitis pigmentosa 73 (RP73)
  • 亚细胞定位：
    Lysosome membrane; Multi-pass membrane protein. Note=Colocalizes with the lysosomal marker LAMP2. The signal peptide is not cleaved upon translocation into the endoplasmic reticulum; the precursor is probably targeted to the lysosomes via the adapter protein complex-mediated pathway that involves tyrosine- and/or dileucine-based conserved amino acid motifs in the last C-terminus 16-amino acid domain.
  • 组织特异性：
    Widely expressed, with highest level in leukocytes, heart, liver, skeletal muscle, lung, placenta and liver.
  • 数据库链接：

    HGNC: 26527

    OMIM: 252930

    KEGG: hsa:138050

    STRING: 9606.ENSP00000368965

    UniGene: Hs.600384