製品の概要

  • 製品名Anti-FKRP antibody
    FKRP 一次抗体 製品一覧
  • 製品の詳細
    Rabbit polyclonal to FKRP
  • アプリケーション適用あり: WBmore details
  • 種交差性
    交差種: Human
  • 免疫原

    Synthetic peptide conjugated to KLH, corresponding to a region within internal sequence amino acids 236-265 of Human FKRP (NP_077277.1, NP_077277.1).

  • ポジティブ・コントロール
    • HL60 cell line lysates.

製品の特性

  • 製品の状態Liquid
  • 保存方法Shipped at 4°C. Store at 4°C (up to 6 months). Store at -20°C long term.
  • バッファーPreservative: 0.09% Sodium azide
    Constituent: 99% PBS
  • Concentration information loading...
  • 精製度Immunogen affinity purified
  • 特記事項(精製)ab123337 is purified through a protein A column, followed by peptide affinity purification.
  • 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 ab123337 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 1/100 - 1/500. Predicted molecular weight: 55 kDa.

ターゲット情報

  • 機能Could be a transferase involved in the modification of glycan moieties of alpha-dystroglycan (DAG1).
  • 組織特異性Expressed predominantly in skeletal muscle, placenta, and heart and relatively weakly in brain, lung, liver kidney and pancreas.
  • 関連疾患Defects in FKRP are the cause of muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A5 (MDDGA5) [MIM:613153]. MDDGA5 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.
    Defects in FKRP are the cause of muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]. MDDGB5 is a congenital muscular dystrophy characterized by a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, a secondary deficiency of laminin alpha2, and a marked reduction in alpha-dystroglycan expression. Only a subset of MDDGB5 patients have brain involvements.
    Defects in FKRP are the cause of muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]; also known as limb-girdle muscular dystrophy type 2I. MDDGC5 is an autosomal recessive disorder with age of onset ranging from childhood to adult life, and variable severity. Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. A reduction of alpha-dystroglycan and laminin alpha-2 expression can be observed on skeletal muscle biopsy from MDDGC5 patients.
  • 配列類似性Belongs to the licD transferase family.
  • 翻訳後修飾N-glycosylated.
  • 細胞内局在Golgi apparatus. Secreted. Cell membrane > sarcolemma. Rough endoplasmic reticulum. According to some studies the N-terminal hydrophobic domain is cleaved after translocation to the Golgi apparatus and the protein is secreted. According to others the N-terminal hydrophobic domain is a transmembrane domain and the protein is a type II transmembrane type targeted to the Golgi apparatus by a non-cleavable signal anchor sequence. Localization at the cell membrane may require the presence of dystroglycan. At the Golgi apparatus localizes most likely at the cis-compartment. Detected in rough endoplasmic reticulum in myocytes. In general, mutants associated with severe clinical phenotypes are retained within the endoplasmic reticulum.
  • Information by UniProt
  • 参照データベース
  • 別名
    • Fkrp antibody
    • FKRP_HUMAN antibody
    • FLJ12576 antibody
    • Fukutin related protein antibody
    • Fukutin-related protein antibody
    • LGMD2I antibody
    • MDC1C antibody
    • MGC2991 antibody
    see all

Anti-FKRP antibody 画像

  • Anti-FKRP antibody (ab123337) at 1/100 dilution + HL60 cell line lysates at 35 µg

    Predicted band size : 55 kDa

Anti-FKRP antibody (ab123337) 使用論文

ab123337 has not yet been referenced specifically in any publications.

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