|Description:||Rabbit polyclonal antibody to FKRP.|
|Dilutions:||WB 1:1000 - 1:3000|
|Immunogen:||Recombinant protein of human FKRP|
|Formulation:||PBS with 0.02% sodium azide, 50% glycerol, pH7.3.|
|Storage:||Store at -20℃. Avoid freeze / thaw cycles.|
Target (Information from UniProt)
|Function:||Transferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.|
|Tissue Specificity:||Expressed predominantly in skeletal muscle, placenta, and heart and relatively weakly in brain, lung, liver kidney and pancreas.|
|Involvement in Disease:||Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5: 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.
Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5: A congenital muscular dystrophy characterized by a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, secondary deficiency of laminin alpha2, and a marked reduction in alpha-dystroglycan expression. Only a subset of affected individuals have brain involvements.
Muscular dystrophy-dystroglycanopathy limb-girdle C5: An autosomal recessive degenerative myopathy 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.|
|Cellular Location:||Golgi apparatus membrane. 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. Localization at the cell membrane may require the presence of dystroglycan. At the Golgi apparatus localizes to the middle-to-trans-cisternae, as assessed by MG160 colocalization. Detected in rough endoplasmic reticulum in myocytes. In general, mutants associated with severe clinical phenotypes are retained within the endoplasmic reticulum.
Fukutin related protein Antibody
Fukutin-related protein Antibody
Western blot analysis of extracts of various cells, using FKRP antibody.