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Fukutin Antibodies
AND FKTN ELISA kits, Fukutin Proteins
Many biological assays use antibodies to detect Fukutin, such as Western Blot (WB), ELISA, Flow Cytometry, Immunocytochemistry (IHC). These antibodies can be polyclonal or monoclonal, and react with Fukutin in Human, Mouse, Rat, and many other animal samples. Boster Bio use mainly mouse and rabbit to develop Fukutin antibodies...
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FKTN Overview
Facts about Fukutin.
Fukutin (FKTN)
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 initial step in the formation of the ribitol 5-phosphate tandem repeat that 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 regular POMGNT1 activity (PubMed:17034757). May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes (PubMed:25279699).
Gene Information
| Human | |
|---|---|
| Gene Name: | FKTN |
| Uniprot: | O75072 |
| Entrez: | 2218 |
Family
| Belongs to: |
|---|
| LicD transferase family |
Alternative Names
CMD1X; EC 2.-; FCMDMGC134945; fukutin; Fukuyama type congenital muscular dystrophy (fukutin); Fukuyama type congenital muscular dystrophy protein; Fukuyama-type congenital muscular dystrophy protein; LGMD2MMGC134944; MDDGA4; MDDGB4; MDDGC4; MGC126857; MGC138243
Molecular Weight
Mass (kDA):
53.724 kDA
Genomic Context
| Human | |
|---|---|
| Location: | 9q31.2 |
| Sequence: | 9; NC_000009.12 (105558117..105655950) |
Tissue Specificity
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).
Subcellular Localizations
Golgi apparatus membrane; Single-pass type II membrane protein. Cytoplasm. Nucleus. In retinal tissue, does not localize with the Golgi apparatus.
Diseases
- Muscular Dystrophy
- Dystrophy
- Congenital Muscular Dystrophy (disorder)
- Fukuyama Type Congenital Muscular Dystrophy
- Walker-warburg Congenital Muscular Dystrophy
- Lissencephaly
- Weakness
- Muscular Dystrophies, Limb-girdle
- Muscle Weakness
- Muscle Eye Brain Disease
- Coronary Microvascular Disease
- Nervousness
Pathways
- Glycosylation
- Pathogenesis
- Localization
- Brain Development
- Muscle Hypertrophy
- Cell Adhesion
- Cell Proliferation
- Aging
- Protein Glycosylation
- Regeneration
- Mrna Splicing
PTMs
- Glycosylation
Research Areas
- Neuroscience
For details, visit:
bosterbio.com/bosterbio-gene-info-cards/FKTN
bosterbio.com/bosterbio-gene-info-cards/FKTN
References
PMID: 9690476 by Kobayashi K., et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy.
PMID: 11165248 by Kobayashi K., et al. Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin.