|Other Names||Fukutin-related protein, 2---, FKRP|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|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.|
|Cellular Location||Golgi apparatus membrane; Single-pass type II membrane protein. Secreted. Cell membrane, sarcolemma. Rough endoplasmic reticulum. Note=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|
|Tissue Location||Expressed predominantly in skeletal muscle, placenta, and heart and relatively weakly in brain, lung, liver kidney and pancreas|
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This gene encodes a protein which is targeted to themedial Golgi apparatus and is necessary for posttranslationalmodification of dystroglycan. Mutations in this gene have beenassociated with congenital muscular dystrophy, mental retardation,and cerebellar cysts. Several alternatively spliced transcriptvariants of this gene have been described, but the full-lengthnature of some of these variants has not been determined. [providedby RefSeq].
Kawahara, G., et al. Hum. Mol. Genet. 19(4):623-633(2010)Crowther-Swanepoel, D., et al. Nat. Genet. 42(2):132-136(2010)Lu, P.J., et al. Biochim. Biophys. Acta 1802(2):253-258(2010)Hanisch, F., et al. J. Neurol. 257(2):300-301(2010)Bourteel, H., et al. J. Neurol. Neurosurg. Psychiatr. 80(12):1405-1408(2009)
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