Fukutin
Fukutin is a protein that in humans is encoded by the FKTN gene. It is associated with Fukuyama congenital muscular dystrophy, Walker-Warburg syndrome, and Muscular dystrophy-dystroglycanopathy.
Function[edit | edit source]
Fukutin is a putative glycosyltransferase that is thought to function in the Golgi apparatus. It is involved in the modification of alpha-dystroglycan, a central component of the dystrophin-glycoprotein complex (DGC). The DGC is a large complex of proteins that links the cytoskeleton of a muscle fiber to the surrounding extracellular matrix.
Clinical significance[edit | edit source]
Mutations in the FKTN gene are associated with a form of congenital muscular dystrophy characterized by a combination of muscle weakness and brain abnormalities. This includes Fukuyama congenital muscular dystrophy, Walker-Warburg syndrome, and Muscular dystrophy-dystroglycanopathy.
See also[edit | edit source]
- Fukuyama congenital muscular dystrophy
- Walker-Warburg syndrome
- Muscular dystrophy-dystroglycanopathy
References[edit | edit source]
External links[edit | edit source]
| Fukutin Resources | |
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Contributors: Prab R. Tumpati, MD
