PLEC1
MIM.601282 8q24
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plectin
Plectin-1 (PLEC1) is one of the largest polypeptides known, was originally identified as a major component of intermediate filament preparations obtained from cultured cells. It is a 500-kD intermediate filament binding protein and may provide mechanical strength to cells and tissues by acting as a cross linking element of the cytoskeleton.
Pathology
germline mutations of PLEC1 in
- muscular dystrophy and epidermolysis bullosa simplex (MIM.226670)
- epidermolysis bullosa simplex Ogna type (MIM.131950)
- epidermolysis bullosa simplex associated with pyloric atresia (15681471)
See also