Family

Dystrophin/utrophin (IPR035436)

Short name: Dystrophin/utrophin

Overlapping homologous superfamilies

None.

Family relationships

  • Dystrophin/utrophin (IPR035436)

Description

Dystrophin anchors the extracellular matrix to the cytoskeleton via F-actin and is a ligand for dystroglycan. It is a component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilising the sarcolemma [PMID: 16710609, PMID: 11917091].

Mutations in the dystrophin gene cause Duchenne muscular dystrophy (DMD), which is the most common form of muscular dystrophy and a sex-linked recessive disorder [PMID: 3319190].

Utrophin (dystrophin-related protein 1) is normally expressed on the sarcolemma of developing and regenerating muscle fibres [PMID: 8186702, PMID: 1483043]. It is ultimately replaced by dystrophin in the sarcolemma of normal maturing fibres and in normal conditions it is confined to the neuromuscular and myotendinous junctions. However, in the absence of dystrophin, utrophin is expressed on the sarcolemma of dystrophic fibres acting to mitigate necrosis [PMID: 9846586].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PIRSF