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FKTN Antibody (Center) Blocking peptide

Synthetic peptide

     
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Product Information
Primary Accession O75072
Clone Names 100318028
Peptide ID 100318028
Additional Information
Gene ID 2218
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.
StorageMaintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.
PrecautionsThis product is for research use only. Not for use in diagnostic or therapeutic procedures.
Protein Information
Name FKTN
Synonyms FCMD
Function Catalyzes the transfer of CDP-ribitol to the distal N- acetylgalactosamine 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) (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:29477842). This constitutes the first step in the formation of the ribitol 5-phosphate tandem repeat which links the phosphorylated O-mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3- glucuronic acid-beta-1 (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:29477842). Required for normal location of POMGNT1 in Golgi membranes, and for normal POMGNT1 activity (PubMed:17034757). May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes (PubMed:25279699). Could be involved in brain development (Probable).
Cellular Location Golgi apparatus membrane; Single-pass type II membrane protein. Cytoplasm {ECO:0000250|UniProtKB:Q8R507}. Nucleus {ECO:0000250|UniProtKB:Q8R507}. Note=In retinal tissue, does not localize with the Golgi apparatus. {ECO:0000250|UniProtKB:Q8R507}
Tissue Location Expressed in the retina (at protein level) (PubMed:29416295). Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle (PubMed:11115853) Expressed at similar levels in control fetal and adult brain (PubMed:11115853). Expressed in migrating neurons, including Cajar-Retzius cells and adult cortical neurons, as well as hippocampal pyramidal cells and cerebellar Purkinje cells (PubMed:11115853). No expression observed in the glia limitans, the subpial astrocytes (which contribute to basement membrane formation) or other glial cells (PubMed:11115853)
Research Areas
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Background

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.

References

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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Cat# BP12786c
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