UTRN
LOCUS ID7402
GENE_SYMBOLUTRN
GENE NAMEutrophin
SYNONYMNSDRP, DMDL, DRP1
CHROMOSOME6
HOMOLOGENE ID21398
microRNAsNANA
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 studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic altertive to muscular dystrophy which is caused by mutations in the dystrophin gene. Altertive splicing of the utrophin gene has been described; however, the full-length ture of these variants has not yet been determined. [provided by RefSeq, Jul 2008]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. Endogenous DRP1 expression increased in DN.25857570