Overview

  • Product name

  • Description

    Rabbit polyclonal to FKRP
  • Host species

    Rabbit
  • Tested applications

    Suitable for: ICC/IFmore details
  • Species reactivity

    Reacts with: Human
    Predicted to work with: Mouse
  • Immunogen

    Recombinant fragment (proprietary-tag) corresponding to Human FKRP aa 324-402.
    Sequence:

    ETARYVVGVLEAAGVRYWLEGGSLLGAARHGDIIPWDYDVDLGIYLEDVG NCEQLRGAEAGSVVDERGFVWEKAVEGDF


    Database link: Q9H9S5

  • Positive control

    • SH-SY5Y cells.

Properties

  • Form

    Liquid
  • Storage instructions

    Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C long term. Avoid freeze / thaw cycle.
  • Storage buffer

    pH: 7.2
    Preservative: 0.02% Sodium azide
    Constituents: 40% Glycerol, 59% PBS
  • Concentration information loading...
  • Purity

    Immunogen affinity purified
  • Clonality

    Polyclonal
  • Isotype

    IgG
  • Research areas

Applications

Our Abpromise guarantee covers the use of ab220059 in the following tested applications.

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

Application Abreviews Notes
ICC/IF Use a concentration of 1 - 4 µg/ml.

Fixation/Permeabilization: PFA/Triton X-100

Target

  • Function

    Could be a transferase involved in the modification of glycan moieties of alpha-dystroglycan (DAG1).
  • Tissue specificity

    Expressed predominantly in skeletal muscle, placenta, and heart and relatively weakly in brain, lung, liver kidney and pancreas.
  • Involvement in disease

    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.
  • Sequence similarities

    Belongs to the licD transferase family.
  • Post-translational
    modifications

    N-glycosylated.
  • Cellular localization

    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
  • Database links

  • Alternative names

    • Fkrp antibody
    • FKRP_HUMAN antibody
    • FLJ12576 antibody
    • Fukutin related protein antibody
    • Fukutin-related protein antibody
    • LGMD2I antibody
    • MDC1C antibody
    • MGC2991 antibody
    see all

Images

  • Immunofluorescent analysis of paraformaldehyde-fixed, Triton X-100 permeabilized SH-SY5Y cells labeling FKRP with ab220059 at 4 μg/ml dilution showing localization to the nucleus, cytosol and the Golgi apparatus (green).

References

ab220059 has not yet been referenced specifically in any publications.

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