| UTRN |
| LOCUS ID | 7402 | ||||||||||
| GENE_SYMBOL | UTRN | ||||||||||
| GENE NAME | utrophin | ||||||||||
| SYNONYMNS | DRP, DMDL, DRP1 | ||||||||||
| CHROMOSOME | 6 | ||||||||||
| HOMOLOGENE ID | 21398 |
| microRNAs | NA | NA |
| 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 sypse and myotendinous junctions, where it participates in post-syptic membrane maintence and acetylcholine receptor clustering. Mouse studie |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Nephropathy | 1. Endogenous DRP1 expression increased in DN. | 25857570 |