DCHS1

DCHS1 (Dachsous Cadherin-Related 1) is a protein that in humans is encoded by the DCHS1 gene. This protein is a member of the cadherin superfamily, integral to the formation and function of cell adhesion structures.

Function

The DCHS1 protein is a type of cadherin, a group of proteins that mediate cellular adhesion. Cadherins are crucial for the formation of tight junctions between cells, which are necessary for the integrity of epithelial tissues. DCHS1 is specifically involved in the regulation of cell polarity, cell migration, and tissue morphogenesis.

Clinical significance

Mutations in the DCHS1 gene have been associated with Van Maldergem syndrome, a rare genetic disorder characterized by intellectual disability, distinctive facial features, and abnormalities of the hands and feet. Additionally, DCHS1 mutations have been implicated in mitral valve prolapse, a common heart valve disorder.

Research

Research into the DCHS1 gene and its associated protein is ongoing, with studies focusing on its role in cell adhesion, tissue development, and disease pathogenesis. Understanding the function of DCHS1 could provide insights into the mechanisms of various diseases and potentially lead to new therapeutic strategies.

See also

• Cadherin
• Cell adhesion
• Van Maldergem syndrome
• Mitral valve prolapse