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FKTN
Loading...Anti-FKTN Products
- Anti-FKTN Immunohistochemistry Kit (VS-0525-XY2568)
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- Species Reactivity: Human
- Target: FKTN
- Application: IHC
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- Anti-Mouse FKTN Immunohistochemistry Kit (VS-0525-XY2569)
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- Species Reactivity: Human, Mouse, Rat
- Target: FKTN
- Application: IHC
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More Infomation
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For Research Use Only. Not For Clinical Use.
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.
Protein class
Disease related genes, Human disease related genes
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Oligodendrocytes, Inhibitory neurons, Excitatory neurons, Oligodendrocyte precursor cells)
Immune cell specificity
Not detected in immune cells
Cell line specificity
Low cell line specificity
Interaction
Forms a complex composed of FKTN/fukutin, FKRP and RXYLT1/TMEM5 (PubMed:29477842). Interacts (via transmembrane domain) with POMGNT1; the interaction is direct and is required for normal POMGNT1 location in Golgi membranes (PubMed:17034757).
Molecular function
Transferase
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