PLEC

Synonym(s): PCN, PLTN, EBS1, PLEC1

Locus: 8q24

Protein: Plectin-1

Disorder(s):

• Epidermolysis Bullosa with Pyloric Atresia
• PLEC1-Related Epidermolysis Bullosa with Pyloric Atresia
• Epidermolysis Bullosa Simplex with Muscular Dystrophy
• Epidermolysis Bullosa Simplex, Ogna Type
• Limb-Girdle Muscular Dystrophy Type 2Q