概述

  • 产品名称Anti-FKRP抗体
    参阅全部 FKRP 一抗
  • 描述
    兔多克隆抗体to FKRP
  • 经测试应用适用于: WBmore details
  • 种属反应性
    与反应: 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).

  • 阳性对照
    • HL60 cell line lysates.

性能

  • 形式Liquid
  • 存放说明Shipped at 4°C. Store at 4°C (up to 6 months). Store at -20°C long term.
  • 存储溶液Preservative: 0.09% Sodium azide
    Constituent: 99% PBS
  • Concentration information loading...
  • 纯度Immunogen affinity purified
  • 纯化说明ab123337 is purified through a protein A column, followed by peptide affinity purification.
  • 克隆多克隆
  • 同种型IgG
  • 研究领域

应用

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.

应用 Ab评论 说明
WB 1/100 - 1/500. Predicted molecular weight: 55 kDa.

靶标

  • 功能Could be a transferase involved in the modification of glycan moieties of alpha-dystroglycan (DAG1).
  • 组织特异性Expressed predominantly in skeletal muscle, placenta, and heart and relatively weakly in brain, lung, liver kidney and pancreas.
  • 疾病相关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.
  • 序列相似性Belongs to the licD transferase family.
  • 翻译后修饰N-glycosylated.
  • 细胞定位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
  • 数据库链接
  • 别名
    • 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 图像

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

    Predicted band size : 55 kDa

Anti-FKRP antibody (ab123337)参考文献

ab123337 has not yet been referenced specifically in any publications.

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