PLEC gene
The PLEC gene provides instructions for making plectin, a protein essential for maintaining the structural integrity of skin and muscle tissues.
Normal Function
The PLEC gene provides instructions for making the protein plectin. Plectin is found in many tissues, including skin and muscle, where it interacts with the cell's structural framework, the cytoskeleton. Specifically, plectin cross-links intermediate filaments to one another and to the cell membrane.
In skin cells, plectin is a key component of hemidesmosomes and desmosomes, which anchor the outer layer of the skin (the epidermis) to underlying layers. This structural support is vital for skin resilience.
Health Conditions Related to Genetic Changes
Epidermolysis bullosa with pyloric atresia (EB-PA)
Mutations in the PLEC gene can cause EB-PA, a condition involving skin blistering and a life-threatening obstruction of the digestive tract called pyloric atresia. A shortage of functional plectin disrupts the attachment of the epidermis to underlying skin layers, making the skin fragile.
Epidermolysis bullosa simplex
A specific mutation (Arg2000Trp) in the PLEC gene is associated with the Ogna type of epidermolysis bullosa simplex. This mutation alters the 3D folding of the plectin protein, preventing it from interacting with the cytoskeleton and causing the skin to blister easily due to friction.
Other disorders
Epidermolysis bullosa with muscular dystrophy is caused by mutations that alter the structure, function, or production of plectin. In addition to skin blistering, a shortage of functional plectin in muscle tissue affects structures needed for muscle contraction, leading to progressive muscle weakness and wasting (atrophy).