Protocadherin 19
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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
[edit | edit source]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
[edit | edit source]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
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