SPRR2E
The SPRR2E Gene: A Guardian of Skin Integrity
Description
The SPRR2E gene encodes small proline-rich protein 2E (SPRR2E), a vital component of the skin‘s epidermal barrier. It plays a crucial role in maintaining the skin‘s moisture, elasticity, and resistance to infection. SPRR2E is highly expressed in the outer layer of the epidermis, known as the stratum corneum. This protein forms a protective network that holds skin cells together, preventing dehydration and the entry of harmful microorganisms.
Associated Diseases
Mutations in the SPRR2E gene have been linked to several skin disorders, including:
- Atopic dermatitis (eczema): SPRR2E deficiency is associated with impaired skin barrier function, leading to dryness, itching, and inflammation characteristic of eczema.
- Psoriasis: Abnormalities in SPRR2E expression have been implicated in the development of psoriasis, a chronic inflammatory skin condition characterized by scaling, red patches.
- Ichthyosis vulgaris: Mutations in SPRR2E can result in this inherited skin condition, which causes dry, scaly, and thickened skin.
Did you Know ?
Studies have shown that individuals with eczema have significantly lower levels of SPRR2E in their skin compared to healthy individuals. This suggests that SPRR2E plays a pivotal role in preventing the development of eczema.
