Utrophin Products

Description

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.

Bioinformatics

Entrez	7402 Human
Uniprot	NP_009055 Human
Product By Gene ID	7402
Alternate Names	DMDLutrophin (homologous to dystrophin) DRP DRP1DRP-1 Dystrophin-related protein 1 FLJ23678 utrophin