| Protein Name | utrophin |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 7402 |
| Gene Symbol | UTRN |
| UniProt | P46939 (UTRN_HUMAN), Q6LBS5 (Q6LBS5_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
137
Total Number of Articles : 127 |
Description |
utrophin |
| Gene Summary |
This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008] |
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| Properties | |