Entrez gene ID | | 57526 |
Official gene symbol | | PCDH19 |
Full name | | protocadherin 19 |
Aliases | | ,DKFZp686P1843,EFMR,KIAA1313, |
Gene summary | | 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. |
Location | | Chromosome: X Locus: Xq13.3 |
Gene position | | 99665271 - 99546642 Map Viewer |
Gene orientation | | minus |
Gene size | | 118630 bp |
Gene sequence |
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OMIM ID | | 300460 |