Aliases for UTRN Gene
External Ids for UTRN Gene
Previous HGNC Symbols for UTRN Gene
Previous GeneCards Identifiers for UTRN Gene
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]
GeneCards Summary for UTRN Gene
UTRN (Utrophin) is a Protein Coding gene. Diseases associated with UTRN include encephalopahty, lethal, due to defective mitochondrial peroxisomal fission and duchenne muscular dystrophy. Among its related pathways are Agrin Interactions at Neuromuscular Junction. GO annotations related to this gene include calcium ion binding and actin binding. An important paralog of this gene is DRP2.
UniProtKB/Swiss-Prot for UTRN Gene
May play a role in anchoring the cytoskeleton to the plasma membrane.