PLEC1
MIM.601282 8q24
Image Gallery
[ (
||image_reduire{0,60}|inserer_attribut{alt,Plectin and hemidesmosome})
]
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
PLECs