Protocadherin 19 is a protein belonging to the
protocadherin
Protocadherins (Pcdhs) are the largest mammalian subgroup of the cadherin superfamily of homophilic cell-adhesion proteins. They were discovered by Shintaro Suzuki's group, when they used PCR to find new members of the cadherin family. The PCR fra ...
family, which is part of the large
cadherin
Cadherins (named for "calcium-dependent adhesion") are cell adhesion molecules important in forming adherens junctions that let cells adhere to each other. Cadherins are a class of type-1 transmembrane proteins, and they depend on calcium (Ca2+) ...
superfamily of
cell-adhesion proteins. The PCDH19 gene encoding the protein is located on the long arm of the
X chromosome
The X chromosome is one of the two sex chromosomes in many organisms, including mammals, and is found in both males and females. It is a part of the XY sex-determination system and XO sex-determination system. The X chromosome was named for its u ...
.
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.
History
The PCDH19 gene that encodes the protein was first
cloned
Cloning is the process of producing individual organisms with identical genomes, either by natural or artificial means. In nature, some organisms produce clones through asexual reproduction; this reproduction of an organism by itself without ...
in 2000 by Nagase et al.
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.
References
{{Cell adhesion molecules
Cell adhesion proteins
Cadherins