Protocadherin 19

Protocadherin 19 (PCDH19) is a protein that in humans is encoded by the PCDH19 gene. It is a member of the protocadherin family, a subfamily of the larger cadherin superfamily. The cadherin superfamily is a group of genes that encode proteins involved in cell adhesion, a critical process in the development and maintenance of tissues.

Function

PCDH19 is expressed in the nervous system, where it plays a crucial role in the formation and function of the neural network. It is involved in cell-cell adhesion, a process that is essential for the formation of the complex architecture of the nervous system. Mutations in the PCDH19 gene are associated with a form of epilepsy that is limited to females, known as PCDH19 Female Limited Epilepsy (PCDH19-FE).

Clinical significance

Mutations in the PCDH19 gene cause PCDH19 Female Limited Epilepsy (PCDH19-FE), a condition characterized by seizures that begin in infancy or early childhood. This condition is unique in that it affects females almost exclusively. Males with PCDH19 mutations are typically unaffected, although there are rare cases of affected males.

Research

Research into PCDH19 and its role in epilepsy is ongoing. Understanding the function of this gene and how mutations cause epilepsy may lead to new treatments for this and other forms of epilepsy.

See also

• Cadherin
• Protocadherin
• Epilepsy