Disease-gene associations mined from literature

Literature associating PLEC and megaconial type congenital muscular dystrophy

PLEC [ENSP00000323856]

Plectin; Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane complexes in muscle. May be involved not only in the filaments network, but also in the regulation of their dynamics. Structural component of muscle. Isoform 9 plays a major role in the maintenance of myofiber integrity.

Synonyms:  PLEC,  E9PIA2,  E9PKG0,  E9PMV1,  E9PQ28 ...

Linkouts:  STRING  Pharos  UniProt  OMIM