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ALG1 Antibody

  • 货号：
    CSB-PA001593GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q9BT22
  • 基因名：
    ALG1
  • 别名：
    4-mannosyltransferase antibody; Alg1 antibody; ALG1_HUMAN antibody; asparagine-linked glycosylation 1 homolog (yeast; beta-1,4-mannosyltransferase) antibody; asparagine-linked glycosylation 1; beta-1,4-mannosyltransferase homolog (S. cerevisiae) antibody; Asparagine-linked glycosylation protein 1 homolog antibody; Beta 1 4 mannosyltransferase antibody; Beta-1 antibody; CDG1K antibody; Chitobiosyldiphosphodolichol beta-mannosyltransferase antibody; GDP Man GlcNAc2 PP dolichol mannosyltransferase antibody; GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase antibody; GDP-mannose-dolichol diphosphochitobiose mannosyltransferase antibody; Hmat-1 antibody; HMAT1 antibody; HMT 1 antibody; HMT1 antibody; Mannosyltransferase 1 antibody; Mannosyltransferase-1 antibody; MT 1 antibody; MT-1 antibody; MT1 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human ALG1
  • 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：
    Participates in the formation of the lipid-linked precursor oligosaccharide for N-glycosylation. Involved in assembling the dolichol-pyrophosphate-GlcNAc(2)-Man(5) intermediate on the cytoplasmic surface of the ER.
  • 基因功能参考文献：
    1. evaluated the genetic association of WDR3 and ALG1 in schizophrenia. We examined 21 single nucleotide polymorphisms [SNPs; W1 (rs1812607)-W16 (rs6656360), A1 (rs8053916)-A10 (rs9673733)] from these genes using the Japanese case-control sample (1,808 schizophrenics and 2,170 matched controls). No significant genetic associations of these SNPs were identified. However, we detected a significant association of W4 (rs319471) PMID: 29309433
    2. Study presents molecular, clinical and biochemical findings in the largest collection of ALG1-CDG cases ever reported at a single time with 39 cases, bringing the total number to 57. This ranks it the third most common CDG type behind PMM2-CDG and ALG6-CDG. In addition, highly lethal genotype were identified and confirm the presence of a unique xeno-tetrasaccharide in ALG1-CDG patients. PMID: 26931382
    3. In title. PMID: 25649379
    4. Was detected in the patient's ALG1-coding sequence. PMID: 24157261
    5. Family study defining the phenotype of deficiency of beta-1,4 mannosyltransferase (MT-1) congenital disorder of glycosylation (CDG), due to ALG1 gene mutations. Four novel ALG1 mutations were identified. PMID: 22966035
    6. DNA sequencing of ALG1 revealed nine different mutations, seven of which have not been previously reported. Clinical presentations of deficiency are severe, with dysmorphias, CNS involvement and ocular disturbances PMID: 20679665

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  • 相关疾病：
    Congenital disorder of glycosylation 1K (CDG1K)
  • 亚细胞定位：
    Endoplasmic reticulum membrane; Single-pass type II membrane protein.
  • 蛋白家族：
    Glycosyltransferase group 1 family, Glycosyltransferase 33 subfamily
  • 数据库链接：

    HGNC: 18294

    OMIM: 605907

    KEGG: hsa:56052

    STRING: 9606.ENSP00000262374

    UniGene: Hs.592086