TGM4
The tgm4 Gene: A Key Player in Dermatology and Beyond
Description:
The tgm4 gene, also known as transglutaminase 4, encodes an enzyme that plays a crucial role in the formation and stabilization of the extracellular matrix (ECM). The ECM is a complex network of proteins and polysaccharides that surrounds cells and provides structural support and protection. Tgm4 is specifically involved in the formation of covalent cross-links between proteins called glutaminyl residues, which strengthens the ECM.
Associated Diseases:
Mutations in the tgm4 gene have been linked to a variety of skin and systemic disorders, including:
- Ichthyosis Vulgaris: A common skin condition characterized by dry, flaky skin that resembles fish scales.
- Bullous Congenital Ichthyosiform Erythroderma (BCIE): A severe skin condition that causes extensive blistering and redness from birth.
- Autosomal Recessive Congenital Ichthyosis (ARCI): A rare skin disorder that results in severe thickening and scaling of the skin.
- Celiac Disease: An autoimmune disorder that damages the small intestine when gluten is consumed.
Did you Know ?
Defects in the tgm4 gene are responsible for approximately 10-15% of cases of ichthyosis vulgaris worldwide.
