UTRN (Entrez ID: 7402)

Entrez Gene ID 7402
Official Gene Symbol UTRN (GeneCards)
Full name utrophin
Location 6q24.2
Other ids Vega : OTTHUMG00000015746
MIM : 128240
HGNC : HGNC:12635
Ensembl : ENSG00000152818
Other names DRP, DMDL, DRP1
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]

Variants

Found 22 variants in this database.