Protocadherin 19
{{Short description|Protein}}{{Infobox gene}}
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.
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.{{cite journal | vauthors = Dell'Isola GB, Vinti V, Fattorusso A, Tascini G, Mencaroni E, Di Cara G, Striano P, Verrotti A | title = The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation | journal = Frontiers in Neurology | volume = 12 | issue = | pages = 780053 | date = 2021 | pmid = 35111125 | pmc = 8801579 | doi = 10.3389/fneur.2021.780053 | url = | doi-access = free }}
History
The PCDH19 gene that encodes the protein was first cloned in 2000 by Nagase et al.{{cite journal | vauthors = Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O | title = Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro | journal = DNA Research | volume = 7 | issue = 1 | pages = 65–73 | date = February 2000 | pmid = 10718198 | doi = 10.1093/dnares/7.1.65 | url = | doi-access = free }} 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.{{cite journal | vauthors = Kolc KL, Sadleir LG, Scheffer IE, Ivancevic A, Roberts R, Pham DH, Gecz J | title = A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity | journal = Molecular Psychiatry | volume = 24 | issue = 2 | pages = 241–251 | date = February 2019 | pmid = 29892053 | pmc = 6344372 | doi = 10.1038/s41380-018-0066-9 | url = }}