CLDN1

Description

The CLDN1 gene encodes claudin-1, a transmembrane protein crucial for forming tight junctions between epithelial cells. These junctions act as barriers, regulating the passage of molecules and maintaining tissue integrity. CLDN1 plays a vital role in maintaining homeostasis in various organs, including the skin, intestines, and kidneys. Mutations in CLDN1 can disrupt tight junction function, leading to various diseases.

Associated Diseases

• Hypomagnesemia with secondary hypocalcemia
• Epidermolysis bullosa
• Crohn‘s disease
• Ulcerative colitis
• Cancer

Did you know?

CLDN1 expression is often altered in cancer, contributing to tumor growth and metastasis.