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  4. Recombinant Human Heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), partial

Recombinant Human Heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), partial

  • 货号：
    CSB-YP010330HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP010330HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP010330HU-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-BP010330HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP010330HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    HGSNAT
  • Uniprot No.：
  • 别名：
    HGSNAT; TMEM76; Heparan-alpha-glucosaminide N-acetyltransferase; EC 2.3.1.78; Transmembrane protein 76
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 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：
    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