Overview

  • Product name

  • Description

    Rabbit polyclonal to FKRP
  • Host species

    Rabbit
  • Specificity

    ab65243 detects endogenous levels of total FKRP protein.
  • Tested applications

    Suitable for: ELISA, WBmore details
  • Species reactivity

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

    Synthetic peptide derived from N terminal of human FKRP.

  • Positive control

    • Jurkat and COLO205 cell extracts.

Properties

  • Form

    Liquid
  • Storage instructions

    Shipped at 4°C. Store at -20°C. Stable for 12 months at -20°C.
  • Storage buffer

    pH: 7.40
    Preservative: 0.02% Sodium azide
    Constituents: PBS, 50% Glycerol, 0.87% Sodium chloride

    Without Mg2+ and Ca2+
  • Concentration information loading...
  • Purity

    Immunogen affinity purified
  • Clonality

    Polyclonal
  • Isotype

    IgG
  • Research areas

Applications

Our Abpromise guarantee covers the use of ab65243 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
ELISA 1/20000.
WB 1/500 - 1/1000. Detects a band of approximately 55 kDa (predicted molecular weight: 55 kDa).

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

  • All lanes : Anti-FKRP antibody (ab65243) at 1/500 dilution

    Lane 1 : Jurkat cell extract
    Lane 2 : COLO205 cell extract
    Lane 3 : COLO205 cell extract with immunising peptide

    Predicted band size: 55 kDa
    Observed band size: 55 kDa
    Additional bands at: 22 kDa, 24 kDa. We are unsure as to the identity of these extra bands.



    The amount of positive control loading for the WB is 5-30 ug of total protein. The amount of the peptide for the WB is 5-10 ug.

References

ab65243 has not yet been referenced specifically in any publications.

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