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

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

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

• Fukuyama congenital muscular dystrophy
• Walker-Warburg syndrome
• Muscular dystrophy-dystroglycanopathy

References

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External links

• FKTN at the National Center for Biotechnology Information

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