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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.
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Protein Aliases: Protocadherin-19
Gene Aliases: B530002L05Rik; EFMR; EIEE9; Gm717; KIAA1313; mKIAA1313; PCDH19
UniProt ID: (Human) Q8TAB3, (Mouse) Q80TF3
Entrez Gene ID: (Human) 57526, (Mouse) 279653
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