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PCDH19 / Protocadherin 19 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.
Gene Name: | Protocadherin 19 |
Family/Subfamily: | Cadherin , not assigned-Cadherin |
Synonyms: | PCDH19, EFMR, KIAA1313, Protocadherin 19, Protocadherin-19, EIEE9 |
Target Sequences: | AB037734 BAA92551.1 Q8TAB3 |
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