PLEC : plectin
Description
The PLEC gene provides instructions for making a protein called plectin. This protein plays a crucial role in maintaining the structural integrity of cells by acting as a linker between various cellular components, including intermediate filaments, microtubules, and microfilaments. Plectin also interacts with other proteins to regulate cell signaling pathways and contribute to cell migration and adhesion. Its widespread presence in different tissues highlights its importance in a variety of cellular processes.
Associated Diseases
- Epidermolysis bullosa simplex (EBS): A group of genetic skin disorders characterized by blistering and skin fragility. Mutations in the PLEC gene can lead to different types of EBS, including EBS-Ogna, EBS-Koebner, and EBS-Weber-Cockayne.
- Muscular dystrophy: PLEC mutations have been linked to certain types of muscular dystrophy, including limb-girdle muscular dystrophy 1C (LGMD1C) and dystrophic epidermolysis bullosa (DEB).
- Neuropathies: Some PLEC mutations can cause a variety of neuropathies, affecting the peripheral nervous system. These can include Charcot-Marie-Tooth disease type 1F (CMT1F) and hereditary sensory neuropathy type 1E (HSN1E).
- Other disorders: PLEC mutations have also been associated with other disorders like congenital myasthenic syndrome, congenital ichthyosis, and ataxia.
Did you know?
The PLEC gene is one of the largest human genes, spanning over 2 million base pairs and containing 92 exons. This size makes it particularly challenging to study.
