SRPR
Title: The SRPR Gene: Unveiling Its Role in Health and Disease
Introduction:
The SRPR gene, located on chromosome 11, plays a crucial role in regulating essential physiological processes in the body. This gene encodes the sushi-repeat-containing protein, SRPR, which is involved in a wide range of cellular functions, including immune responses, cell adhesion, and tissue development.
Description:
The SRPR protein is a member of the sushi domain protein family. Sushi domains are small protein modules that facilitate interactions between cells and extracellular molecules. SRPR contains multiple sushi domains, which enable it to bind to various ligands, including complement proteins, immunoglobulins, and cell surface receptors.
Associated Diseases:
Disruptions in the SRPR gene have been linked to several diseases:
- Age-Related Macular Degeneration (AMD): Mutations in the SRPR gene are among the strongest genetic risk factors for AMD, a common cause of vision loss in the elderly.
- Systemic Lupus Erythematosus (SLE): SRPR deficiency is associated with an increased risk of SLE, an autoimmune disease that affects the skin, joints, kidneys, and other organs.
- Atopic Dermatitis: Mutations in SRPR are linked to atopic dermatitis, a chronic inflammatory skin condition also known as eczema.
- Kidney Disease: SRPR is essential for maintaining kidney function. Mutations in this gene can lead to kidney inflammation and failure.
Did you Know ?
- A large-scale study involving over 10,000 individuals found that a specific mutation in the SRPR gene (rs10490924) increases the risk of AMD by 50%.
