Symbol: Name: ID: |
UTRN utrophin GFS:2415 |
Gene name: | UTRN |
Chromosome: | 6q24 |
Previous Symbols: | DMDL |
Previous Names: | utrophin (homologous to dystrophin) |
Aliases: | DRP, DRP1 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:104631 | Rat Genome Database ID: | RGD:3947 |
HGNC ID: | HGNC:12635 | RefSeq IDs: | NM_007124 |
Entrez Gene ID: | 7402 | Ensembl Gene ID: | ENSG00000152818 |
VEGA IDs: | OTTHUMG00000015746 | UniProt ID: | P46939 |
UCSC ID: | uc003qkt.2 | OMIM ID: | 128240 |
Pubmed: | PMID1426262 | ||
CCDS IDs: | CCDSCCDS34547.1 |
Utrophin is a protein that in humans is encoded by the 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: May play a role in anchoring the cytoskeleton to the plasma membrane (By similarity).
Products for UTRN gene
Catalog | Product Name | Application | Company |
GFS:E02415 | utrophin; ELISA kit | ELISA | n/a |
GFS:A02415 | utrophin; Anti | ANTIBODIES | n/a |
GFS:P02415 | utrophin; Protien | Protien | n/a |