Aliases:This biomarker is also known as:
- epidermolysis bullosa simplex 1 (Ogna),
- plectin 1, intermediate filament binding protein, 500kD,
- Hemidesmosomal protein 1,
- plectin 1, intermediate filament binding protein 500kDa,
Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. PLEC1 interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. It could also bind muscle proteins such as actin to membrane complexes in muscle. There is evidence that PLEC1 may be involved not only in the cross-linking and stabilization of cytoskeletal intermediate filaments network, but also in the regulation of their dynamics. Defects in PLEC1 are the cause of several severe skin and muscle disorders (epidermolysis bullosa simplex with pyloric atresia, epidermolysis bullosa simplex with muscular dystrophy, and epidermolysis bullosa simplex Ogna type). PLEC1 is Widely expressed, with highest levels in muscle, heart, placenta and spinal cord.
|QA State:||Under Review|
There are no datasets associated with this biomarker.