UTRN


Description

The UTRN (utrophin) is a protein-coding gene located on chromosome 6.

Utrophin is a protein encoded by the UTRN gene in humans. It's a key component of the cytoskeleton, the internal framework of cells. Utrophin was discovered during research on Duchenne muscular dystrophy, a genetic disorder, because increasing its production helps prevent cell damage in this condition. The UTRN gene, spanning 900 kilobases, is located on the long arm of chromosome 6. Utrophin shares similarities with dystrophin, another protein involved in muscle function. It's found in normal muscle cells at the neuromuscular synapse, the junction where nerve signals meet muscle cells, and at myotendinous junctions, where muscles connect to tendons.

Utrophin helps to attach the cytoskeleton, the cell's internal scaffolding, to the plasma membrane, the cell's outer boundary.

UTRN is also known as DMDL, DRP, DRP1.

Associated Diseases


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