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FKTN Antibody (Center)
Affinity Purified Rabbit Polyclonal Antibody (Pab)
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Application 
| WB, IHC-P, E |
|---|---|
| Primary Accession | O75072 |
| Other Accession | Q60HG0, NP_001073270.1, NP_006722.2 |
| Reactivity | Human |
| Predicted | Monkey |
| Host | Rabbit |
| Clonality | Polyclonal |
| Isotype | Rabbit IgG |
| Calculated MW | 53724 Da |
| Antigen Region | 177-206 aa |
| Gene ID | 2218 |
|---|---|
| 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. |
| Dilution | WB~~1:1000 IHC-P~~1:10~50 |
| 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. |
| Name | FKTN (HGNC:3622) |
|---|---|
| Function | Catalyzes the transfer of a ribitol-phosphate from 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:26923585, PubMed:27194101, 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:27194101, 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) |
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Provided below are standard protocols that you may find useful for product applications.
Background
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.
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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