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Official Full Name
protocadherin 19
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. Defects in this gene are a cause of epilepsy female-restricted with mental retardation (EFMR). Three transcript variants encoding different isoforms have been found for this gene.
PCDH19; protocadherin 19; EFMR, epilepsy, female restricted, with mental retardation (Juberg Hellman syndrome); protocadherin-19; EIEE9; KIAA1313; OTTHUMP00000023649; OTTHUMP00000023650; OTTHUMP00000226658; EFMR; cadherin; fc83e05; wu:fc83e05; protocadherin19 isoform2

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