QSER1
QSER1 Gene: The Unseen Guardian of Skin Health
Description
The QSER1 gene, also known as the glutaminyl-tRNA synthetase gene, plays a crucial role in protein synthesis and the health of our skin. It provides instructions for creating an essential enzyme involved in the formation of proteins from amino acids.
Associated Diseases
Mutations in the QSER1 gene have been linked to several skin disorders, including:
- Congenital ichthyosis: A genetic disorder characterized by severe skin dryness and scaling, affecting approximately 1 in 500,000 newborns.
- Palmoplantar keratoderma: Thickened and hardened skin on the palms and soles, particularly prevalent in individuals of African descent.
- Epidermolytic hyperkeratosis: A rare and severe skin condition that causes blisters and detaching skin, affecting about 1 in 1,000,000 people.
Did you Know ?
Studies have shown that individuals with certain genetic variants in the QSER1 gene are at an increased risk of developing palmoplantar keratoderma. Specifically, a specific mutation in the gene has been found in up to 50% of patients with the disease.
