製品の概要

  • 製品名Anti-POMGNT1 antibody
    POMGNT1 一次抗体 製品一覧
  • 製品の詳細
    Rabbit polyclonal to POMGNT1
  • アプリケーション適用あり: WBmore details
  • 種交差性
    交差種: Mouse
    交差が予測される動物種: Rat, Rabbit, Horse, Guinea pig, Cow, Cat, Dog, Pig
  • 免疫原

    Synthetic peptide: LLVTVIVNIK LILDTRRAIS EANEDPEPEQ DYDEALGRLE SPRRRGSSPR , corresponding to a region between the N terminal amino acids 47-96 of Human POMGNT1 (NP_080927).

  • ポジティブ・コントロール
    • Mouse brain lysate

製品の特性

  • 製品の状態Liquid
  • 保存方法Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid repeated freeze / thaw cycles.
  • バッファーConstituents: 98% PBS, 2% Sucrose
  • Concentration information loading...
  • 精製度Immunogen affinity purified
  • ポリ/モノポリクローナル
  • アイソタイプIgG
  • 研究分野

アプリケーション

Our Abpromise guarantee covers the use of ab113884 in the following tested applications.

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

アプリケーション Abreviews 特記事項
WB Use a concentration of 1 µg/ml. Predicted molecular weight: 75 kDa. Good results were obtained when blocked with 5% non-fat dry milk in 0.05% PBS-T.

ターゲット情報

  • 機能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.
  • 組織特異性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.
  • パスウェイProtein modification; protein glycosylation.
  • 関連疾患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.
  • 配列類似性Belongs to the glycosyltransferase 13 family.
  • ドメイン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.
  • 細胞内局在Golgi apparatus membrane.
  • Information by UniProt
  • 参照データベース
  • 別名
    • 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

Anti-POMGNT1 antibody 画像

  • Anti-POMGNT1 antibody (ab113884) at 1 µg/ml + Mouse brain lysate at 10 µg

    Predicted band size : 75 kDa

Anti-POMGNT1 antibody (ab113884) 使用論文

ab113884 has not yet been referenced specifically in any publications.

Product Wall

There are currently no Abreviews or Questions for ab113884.
Please use the links above to contact us or submit feedback about this product.

Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"