|Other Names||Fukutin, 2---, Fukuyama-type congenital muscular dystrophy protein, FKTN, FCMD|
|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||Glycosyltransferase 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. May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development.|
|Cellular Location||Golgi apparatus membrane; Single-pass type II membrane protein|
|Tissue Location||Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle. Expressed at similar levels in control fetal and adult brain, but is much reduced in Fukuyama-type congenital dystrophy (FCMD) brains. Expressed in migrating neurons, including Cajar-Retzius cells and adult cortical neurons, as well as hippocampal pyramidal cells and cerebellar Purkinje cells. No expression observed in the glia limitans, the subpial astrocytes (which contribute to basement membrane formation) or other glial cells. In the FCMD brain, neurons in regions with no dysplasia show fair expression, whereas transcripts are nearly undetectable in the overmigrated dysplastic region.|
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The protein encoded by this gene is a putativetransmembrane protein that is localized to the cis-Golgicompartment, where it may be involved in the glycosylation ofalpha-dystroglycan in skeletal muscle. The encoded protein isthought to be a glycosyltransferase and could play a role in braindevelopment. Defects in this gene are a cause of Fukuyama-typecongenital muscular dystrophy (FCMD), Walker-Warburg syndrome(WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilatedcardiomyopathy type 1X (CMD1X). Alternatively spliced transcriptvariants have been found for this gene.
Lim, B.C., et al. Neuromuscul. Disord. 20(8):524-530(2010)Saredi, S., et al. Muscle Nerve 39(6):845-848(2009)Chang, W., et al. Prenat. Diagn. 29(6):560-569(2009)Mercuri, E., et al. Neurology 72(21):1802-1809(2009)Puckett, R.L., et al. Neuromuscul. Disord. 19(5):352-356(2009)
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