[5] Fukutin is expressed in the mammalian retina and is located in the Golgi complex of retinal neurons.

[7] Without this linkage α-dystroglycan will not function properly, this can cause issues with the cytoskeleton, and extracellular matrix.

In skeletal muscles the α-dystroglycan helps stabilize and protect muscle fibers, in the brain it directs movement of nerve cells.

These mutations have been found to be associated with congenital muscular dystrophy, dystroglycanopathies, and Walker-Warburg syndrome.

[9] The severity of these diseases are correlated to the amount of mutations occurring.