Aliases for PCDH19 Gene
External Ids for PCDH19 Gene
Previous HGNC Symbols for PCDH19 Gene
Previous GeneCards Identifiers for PCDH19 Gene
The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Mutations in this gene on human chromosome X are associated with sporadic infantile epileptic encephalopathy and to a female-restricted form of epilepsy (EFMR; also known as PCDH19RE). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
GeneCards Summary for PCDH19 Gene
PCDH19 (Protocadherin 19) is a Protein Coding gene. Diseases associated with PCDH19 include Epileptic Encephalopathy, Early Infantile, 9 and Pcdh19-Related Female-Limited Epilepsy. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDH17.
UniProtKB/Swiss-Prot for PCDH19 Gene
Potential calcium-dependent cell-adhesion protein.