Background: Fukutin-related protein (FKRP) is ubiquitously expressed, with highest expression in heart, skeletal muscle and placenta, and weakest expression in lung, liver, brain, kidney and pancreas. FKRP localizes to the medial Golgi apparatus through its N-terminal and transmembrane domains. It is a predicted glycosyltransferase protein that plays a role in ?-dystroglycan glycosylation. Mutations in FKRP cause various diseases including congenital muscular dystrophy 1C (MDC1C), limb-girdle muscular dystrophy type 2I (LGMD2I) and congenital muscular dystrophies (CMDs) with brain malformations and mental retardation. FKRP mutations may also cause muscle-eye-brain disease (MEB) and Walker-Warburg syndrome (WWS), disorders characterized by disruption of brain and eye structure in addition to muscular dystrophy. Mislocalization of FKRP from the Golgi apparatus is a potential result of mutations in FKRP.
Description: Rabbit polyclonal to FKRP
Immunogen: KLH conjugated synthetic peptide derived from FKRP
Specificity: ·Reacts with Human, Mouse and Rat.
·Isotype: IgG
Application: ·Western blotting: 1/100-500. Predicted Mol wt: 55 kDa;
·Immunohistochemistry (Paraffin/frozen tissue section): 1/50-200;
·Immunocytochemistry/Immunofluorescence: 1/100;
·Immunoprecipitation: 1/50;
·ELISA: 1/500;
·Optimal working dilutions must be determined by the end user.
