Entrez gene ID | | 7402 |
Official gene symbol | | UTRN |
Full name | | utrophin |
Aliases | | ,DMDL,DRP,DRP1,FLJ23678, |
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] |
Location | | Chromosome: 6 Locus: 6q24 |
Gene position | | 144612873 - 145174170 Map Viewer |
Gene orientation | | plus |
Gene size | | 561298 bp |
Gene sequence |
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OMIM ID | | 128240 |
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