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CHST14 Antibody

  • 货号：
    CSB-PA005407GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q8NCH0
  • 基因名：
    CHST14
  • 别名：
    2600016L03Rik antibody; ATCS antibody; Carbohydrate (N acetylgalactosamine 4 0) sulfotransferase 14 antibody; Carbohydrate sulfotransferase 14 antibody; CHST14 antibody; CHSTE_HUMAN antibody; D4ST-1 antibody; D4st1 antibody; Dermatan 4-sulfotransferase 1 antibody; hD4ST1 antibody; RP23-286G12.2 antibody; UNQ1925/PRO4400 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human CHST14
  • 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,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 transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of dermatan sulfate. Plays a pivotal role in the formation of 4-0-sulfated IdoA blocks in dermatan sulfate. Transfers sulfate to the C-4 hydroxyl of beta1,4-linked GalNAc that is substituted with an alpha-linked iduronic acid (IdoUA) at the C-3 hydroxyl. Transfers sulfate more efficiently to GalNAc residues in -IdoUA-GalNAc-IdoUA- than in -GlcUA-GalNAc-GlcUA-sequences. Has preference for partially desulfated dermatan sulfate. Addition of sulfate to GalNAc may occur immediately after epimerization of GlcUA to IdoUA. Appears to have an important role in the formation of the cerebellar neural network during postnatal brain development.
  • 基因功能参考文献：
    1. Dermatan sulfate does not appear in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency. PMID: 28238810
    2. patients with CHST14/D4ST1 deficiency develop progressive multisystem fragility-related manifestations, establishment of a comprehensive and detailed natural history and health-care guidelines as well as further elucidation of the pathophysiology in view of future etiology-based therapy are crucial PMID: 26646600
    3. CHST14 gene mutations are associated with musculocontractural type of Ehlers-Danlos syndrome. PMID: 26373698
    4. We report on the detailed clinical characterization of two sisters with musculocontractural Ehlers-Danlos syndrome caused by a homozygous mutation in the CHST14 gene. PMID: 22581468
    5. Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient adducted thumb-clubfoot syndrome". PMID: 21309034
    6. Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene. PMID: 20842734
    7. A homozygous CHST14 (carbohydrate sulfotransferase 14) mutation in the two familial cases and compound heterozygous mutations in four sporadic cases of Ehlers-Danlos syndrome, were identified. PMID: 20533528
    8. D4ST-1 is a key enzyme and is indispensable in the formation of important functional domains in dermatan sulfate and cannot be compensated by other 4-O-sulfotransferases PMID: 19661164
    9. dermatan-4-sulfotransferase 1 has a role in adducted thumb-clubfoot syndrome PMID: 20004762
    10. D4ST-1 is encoded by a single exon located on human chromosome 15q14; type II membrane protein of 376 amino acids with a 43-amino acid cytoplasmic domain and a 316-amino acid luminal domain containing two potential N-linked glycosylation sites PMID: 11470797

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  • 相关疾病：
    Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1)
  • 亚细胞定位：
    Golgi apparatus membrane; Single-pass type II membrane protein.
  • 蛋白家族：
    Sulfotransferase 2 family
  • 组织特异性：
    Widely expressed. Expressed at high level in pituitary gland, placenta, uterus and thyroid.
  • 数据库链接：

    HGNC: 24464

    OMIM: 601776

    KEGG: hsa:113189

    STRING: 9606.ENSP00000307297

    UniGene: Hs.442449