PLEC encodes plectin, a cytolinker protein that connects intermediate filaments to various cellular structures. It is essential for cytoskeletal organization and cell survival. Mutations cause epidermolysis bullosa simplex with pyloric atresia and late-onset myopathies.
| Property | Value |
|---|---|
| Gene Symbol | PLEC |
| Gene Name | Plectin |
| Chromosomal Location | 8q24.3 |
| NCBI Gene ID | 5339 |
| OMIM | 162284 |
| UniProt | Q15120 |
PLEC encodes plectin, a cytolinker protein that connects intermediate filaments to various cellular structures. It is essential for cytoskeletal organization and cell survival. Mutations cause epidermolysis bullosa simplex with pyloric atresia and late-onset myopathies.
The PLEC gene is associated with the following neurodegenerative and related diseases:
PLEC expression and its relevance to brain function is under active investigation.