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.

Protocadherin 19
Identifiers
Aliases
External IDs	GeneCards: ; OMA:- orthologs
Orthologs Species Human Mouse Entrez n/a n/a Ensembl n/a n/a UniProt n a n/a RefSeq (mRNA) n/a n/a RefSeq (protein) n/a n/a Location (UCSC) n/a n/a PubMed search n/a n/a
Wikidata
View/Edit Human

Clinical significance

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]

History

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.^[3]