Protocadherin 19

Protocadherin 19 is a protein belonging to the protocadherin family, which is part of the large cadherin superfamily of cell-adhesion proteins.The PCDH19 gene encoding the protein is located on the long arm of the X chromosome.Mutations of the PCDH19 gene cause epilepsy-intellectual disability in females.According to a review published in 2021, PCDH19 was one of the six genes most often affected in genetic epilepsies.[1] The PCDH19 gene that encodes the protein was first cloned in 2000 by Nagase et al.[2] In 2008, PCDH19 was identified as the gene responsible for the development of epilepsy-intellectual disability in females, and in the years that have passed since, rare cases were found of males affected by this disease.
protocadherincadherincell-adhesion proteinsX chromosomeepilepsy-intellectual disability in femalesclonedproteinMembrane proteinscell adhesion moleculesIgSF CAMMyelin protein zeroVCAM-1PE-CAML1 familyL1-CAMNectinIntegrinsIntegrin alphaXbeta2Macrophage-1 antigenGlycoprotein IIb/IIIaITGA2BCadherinsDesmosomalDesmogleinDesmocollinPCDH15T-cadherinSelectinsE-selectinL-selectinP-selectinLymphocyte homing receptorintegrinCarcinoembryonic antigen