Disease-gene associations mined from literature

Literature associating PLEC and epidermolysis bullosa simplex with mottled pigmentation

PLEC [ENSP00000323856]

Hemidesmosomal protein 1; 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; Plakins

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

Linkouts:  STRING  Pharos  UniProt  OMIM