Utrophin



utrophin (homologous to dystrophin)
Identifiers
Symbol UTRN
Alt. Symbols DMDL
Entrez 7402
HUGO 12635
OMIM 128240
RefSeq NM_007124
UniProt P46939
Other data
Locus Chr. 6 q24

Utrophin is a protein of the binding domain.

The actin-binding N-terminus.

In normal muscle cells, utrophin is located at the neuromuscular synapse and myotendinous junctions. It is necessary for normal membrane maintenance, and for the clustering of the RNA is found ubiquitously, as the name implies, being abundant in the brain, kidney, liver, lung, muscle, spleen and stomach. In the human fetus during muscle differentiation, utrophin is found at the sarcolemma. It disappears when the fetus begins to express dystrophin.

Utrophin expression is dramatically increased in patients with Duchenne's muscular dystrophy (and female carriers), both in those muscle fibers lacking dystrophin and in rare, revertant fibers that express dystrophin.

No reports have yet associated mutation in the utrophin gene with disease, but it does not seem to play a critical role in development, since mice without utrophin develop normally.

See also

  • dystrophin
 
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