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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.
B530002L05Rik; EFMR; EIEE9; Gm717; Kiaa1313; mKIAA1313; PCDH19; protocadherin 19; protocadherin-19
100 µL
100 µg
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