CCDC58
Description
Claudin-5 (CLDN5) is a transmembrane protein that plays a crucial role in the formation and function of tight junctions, which are essential for maintaining the integrity and permeability of epithelial cell layers. CLDN5 is primarily expressed in epithelial tissues, including those of the skin, gastrointestinal tract, and reproductive system.
CLDN5 is composed of four transmembrane domains, two extracellular loops, and two intracellular loops. The extracellular loops interact with neighboring CLDN5 molecules to form homotypic cell-cell adhesions, while the intracellular loops bind to cytoplasmic proteins, including zonula occludens (ZO) proteins, which link CLDN5 to the actin cytoskeleton.
Associated Diseases
Mutations in CLDN5 have been linked to several diseases, including:
- Congenital chloride diarrhea: A rare genetic disorder characterized by severe, watery diarrhea from birth.
- Hypomagnesemia with secondary hypocalcemia: A condition characterized by low levels of magnesium and calcium in the blood.
- Bartter syndrome type III: A rare kidney disease that leads to excessive loss of salt and water.
- Meningioma: A type of brain tumor that arises from the meninges, the membranes that cover the brain and spinal cord.
- Breast cancer: Increased expression of CLDN5 has been associated with poor prognosis in breast cancer.
Did you Know ?
A study published in the journal "Nature Genetics" found that mutations in CLDN5 are responsible for approximately 1% of cases of congenital chloride diarrhea.
