概述

  • 产品名称
    Anti-POMGNT1抗体
  • 描述
    兔多克隆抗体to POMGNT1
  • 经测试应用
    适用于: WB, IHC-Pmore details
  • 种属反应性
    与反应: Human
    预测可用于: Mouse, Rat, Cow, Pig
  • 免疫原

    Recombinant protein fragment with a sequence corresponding to a region within amino acids 98 and 343 of Human POMGNT1

  • 阳性对照
    • HeLa, HepG2 cell lines. Paraffin-embedded Cal27 xenograft

性能

  • 形式
    Liquid
  • 存放说明
    Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
  • 存储溶液
    Preservative: 0.01% Thimerosal (merthiolate)
    Constituents: 10% Glycerol, 0.1M Tris, 0.1M Glycine, pH 7.0
  • Concentration information loading...
  • 纯度
    Immunogen affinity purified
  • 克隆
    多克隆
  • 同种型
    IgG
  • 研究领域

应用

Our Abpromise guarantee covers the use of ab96353 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

应用 Ab评论 说明
WB 1/500 - 1/3000. Predicted molecular weight: 75 kDa.
IHC-P 1/100 - 1/500.

靶标

  • 功能
    Participates in O-mannosyl glycosylation. May be responsible for the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins. Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity.
  • 组织特异性
    Constitutively expressed. An additional weaker band is also detected in spinal cord, lymph node, and trachea. Expressed especially in astrocytes. Also expressed in immature and mature neurons.
  • 通路
    Protein modification; protein glycosylation.
  • 疾病相关
    Defects in POMGNT1 are the cause of muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280]. MDDGA3 is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly and cerebellar hypoplasia. MDDGA3 patients present severe congenital myopia, congenital glaucoma, pallor of the optic disks, retinal hypoplasia, mental retardation, hydrocephalus, abnormal electroencephalograms, generalized muscle weakness and myoclonic jerks.
    Defects in POMGNT1 are the cause of muscular dystrophy-dystroglycanopathy congenital with mental retardation type B3 (MDDGB3) [MIM:613151]; also called muscular dystrophy congenital POMGNT1-related. MDDGB3 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. Clinical features include mental retardation, white matter changes, cerebellar cysts, pontine hypoplasia, myopia, optic atrophy, decreased alpha-dystroglycan on muscle biopsy and increased serum creatine kinase.
    Defects in POMGNT1 are the cause of muscular dystrophy-dystroglycanopathy limb-girdle type C3 (MDDGC3) [MIM:613157]; also called muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related. MDDGC3 is a rare form of limb-girdle muscular dystrophy with normal cognition. Muscle biopsy shows dystrophic changes with variable staining for glycosylated alpha-dystroglycan.
  • 序列相似性
    Belongs to the glycosyltransferase 13 family.
  • 结构域
    Amino acid residues between 299-311 are important for both protein expression and enzymatic activity. The minimal catalytic domain is located between positions 299-651. Single amino acid substitutions in the stem domain from MEB patients abolished the activity of the membrane-bound form but not the soluble form. This suggests that the stem domain of the soluble form is unnecessary for activity, but that some amino acids play a crucial role in the membrane-bound form.
  • 细胞定位
    Golgi apparatus membrane.
  • Information by UniProt
  • 数据库链接
  • 别名
    • 2-N-acetylglucosaminyltransferase 1 antibody
    • 2-N-acetylglucosaminyltransferase I.2 antibody
    • GnT I.2 antibody
    • GnTI.2 antibody
    • MEB antibody
    • MGAT 1.2 antibody
    • MGAT1.2 antibody
    • O linked mannose beta1 2 N acetylglucosaminyltransferase antibody
    • PMGT1_HUMAN antibody
    • POMGNT 1 antibody
    • POMGnT1 antibody
    • Protein O linked mannose beta 1 2 N acetylglucosaminyltransferase 1 antibody
    • Protein O linked mannose beta1 2 N acetylglucosaminyltransferase antibody
    • Protein O-linked-mannose beta-1 antibody
    • UDP GlcNAc antibody
    • UDP GlcNAc:alpha D mannoside beta 1 2 N acetylglucosaminyltransferase I.2 antibody
    • UDP-GlcNAc:alpha-D-mannoside beta-1 antibody
    see all

图片

  • All lanes : Anti-POMGNT1 antibody (ab96353) at 1/1000 dilution

    Lane 1 : HeLa whole cell lysate
    Lane 2 : Hep G2 whole cell lysate

    Lysates/proteins at 30 µg per lane.


    Predicted band size : 75 kDa
  • ab96353, at 1/500, staining paraffin-embedded Cal27 xenograft by Immunohistochemistry.

文献

ab96353 has not yet been referenced specifically in any publications.

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