Biology:Protocadherin 19
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Short description: Protein
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.[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]
References
- ↑ "The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation". Frontiers in Neurology 12: 780053. 2021. doi:10.3389/fneur.2021.780053. PMID 35111125.
- ↑ "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". DNA Research 7 (1): 65–73. February 2000. doi:10.1093/dnares/7.1.65. PMID 10718198.
- ↑ "A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity". Molecular Psychiatry 24 (2): 241–251. February 2019. doi:10.1038/s41380-018-0066-9. PMID 29892053.
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