Abcam, ab153505, Recombinant Human FKRP protein

Size: 10µg
Recombinant Human FKRP protein is a Human Fragment protein, in the 396 to 494 aa range, expressed in Wheat germ, suitable for ELISA, WB.
Key facts
Expression system:Wheat germ,
Tags:GST tag N-Terminus,
Applications:WB, ELISASee reactivity dataSee the reactivity data table below for information on validated species and application combinations.,
Biologically active:No,
Accession:Q9H9S5,
Animal free:No,
Carrier free:No,
Species:Human,
Storage buffer:pH: 8Constituents: 0.79% Tris HCl, 0.31% Glutathione

Properties and Storage Information:
Shipped at conditions-Dry Ice, Appropriate short-term storage conditions--80°C, Appropriate long-term storage conditions--80°C, Aliquoting information-Upon delivery aliquot, Storage information-Avoid freeze / thaw cycle

Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
The FKRP protein short for fukutin-related protein plays an important role in the glycosylation of alpha-dystroglycan an important component of muscle tissue structure. FKRP weighs approximately 55 kDa and is present in several tissues with high expression levels found in skeletal and cardiac muscle. It resides mainly within the Golgi apparatus where it participates in the modification of glycoproteins.
Biological function summary
FKRP functions as a glycosyltransferase involved in the synthesis of O-linked mannose structures on alpha-dystroglycan. Alpha-dystroglycan forms part of the dystrophin-glycoprotein complex a critical assembly in muscle tissue for linking the extracellular matrix to the cytoskeleton. This connection facilitates cellular stability during muscle contraction and maintains tissue integrity.
Pathways
FKRP operates predominantly within the alpha-dystroglycan glycosylation pathway. This pathway ensures proper glycan structures are present on alpha-dystroglycan permitting its interaction with extracellular matrix components like laminin. FKRP's activity closely interacts with other proteins like fukutin and LARGE1 which also participate in the modification of alpha-dystroglycan therefore impacting overall cell-matrix interactions.
FKRP mutations can lead to muscular dystrophies such as Walker-Warburg syndrome and limb-girdle muscular dystrophy 2I. These disorders often result from deficient glycosylation of alpha-dystroglycan leading to compromised muscle function and stability. Variations in FKRP expression or function affect the dystrophin-glycoprotein complex and consequently influence the muscle tissue's ability to withstand mechanical stress implicating FKRP as a critical player in maintaining muscular health.