|Application ||WB, IHC-P, E|
|Other Accession||Q60HG0, NP_001073270.1, NP_006722.2|
|Calculated MW||53724 Da|
|Antigen Region||177-206 aa|
|Other Names||Fukutin, 2---, Fukuyama-type congenital muscular dystrophy protein, FKTN, FCMD|
|Target/Specificity||This FKTN antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 177-206 amino acids from the Central region of human FKTN.|
|Format||Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.|
|Storage||Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||FKTN Antibody (Center) is for research use only and 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). 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. 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 putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants 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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