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The antibody against FKTN was raised in rabbit using the Recombinant Human Fukutin protein (87-276AA) as the immunogen. This antibody exists as a fitc conjugated isotype IgG, purified by protein G with a purity greater than 95%.
The antibody against FKTN was raised in rabbit using the Recombinant Human Fukutin protein (87-276AA) as the immunogen. This antibody exists as a fitc conjugated isotype IgG, purified by protein G with a purity greater than 95%.
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| Cat.No | ADC-02240A | Clonality | Polyclonal |
|---|---|---|---|
| Host Species | Rabbit | Target Name | FKTN |
| Target Synonyms | FKTN; FCMD; Fukutin; Fukuyama-type congenital muscular dystrophy protein; Ribitol-5-phosphate transferase | Form | Liquid |
| Species Reactivity | Human | Isotype | IgG |
| Storage Buffer | 0.01M PBS, 0.03% Proclin 300; Constituents: 50% Glycerol, PH 7.4 | Purification Method | >95%, Protein G purified |
| Conjugate | FITC conjugated | Storage | Upon receipt |
| Immunogen Description | Recombinant Human Fukutin protein (87-276AA) | Target Species | Human |
|---|---|---|---|
| Immunogen Sequence | Complete sequences for the immunogen, target protein, and peptides are available upon request. | Uniprot ID | O75072 |
Uniprot Id
O75072
Target Species
Human
Target Name
FKTN
Target Full Name
Ribitol-5-phosphate transferase FKTN
Target 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). 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. Required for normal location of POMGNT1 in Golgi membranes, and for normal POMGNT1 activity. May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development (Probable).
Target Involvement
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4); Muscular dystrophy-dystroglycanopathy congenital without mental retardation B4 (MDDGB4); Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4); Cardiomyopathy, dilated 1X (CMD1X)
Target Subcellular Location
Golgi apparatus membrane; Single-pass type II membrane protein. Cytoplasm. Nucleus.
Target Protein Families
LicD transferase family
Target Tissue Specificity
Expressed in the retina (at protein level). Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle. Expressed at similar levels in control fetal and adult brain. Expressed in migrating neurons, including Cajar-Retzius cells
Target Research Area
Biochemicals
Target Synonyms
FKTN; FCMD; Fukutin; Fukuyama-type congenital muscular dystrophy protein; Ribitol-5-phosphate transferase
Target 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.
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