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. [provided by RefSeq, Jul 2017]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PCDH19-20-RE | 20 (40 μL) | 200 μL |  |
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| PCDH19-20-OR | 20 (40 μL) | 200 μL |  |
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| PCDH19-20-GO | 20 (40 μL) | 200 μL |  |
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| PCDH19-20-GR | 20 (40 μL) | 200 μL |  |
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| PCDH19-20-AQ | 20 (40 μL) | 200 μL |  |
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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. [provided by RefSeq, Jul 2017]
Gene Symbol : PCDH19
Gene Name : Protocadherin 19
Chromosome : CHR X: 100,410,272-100,291,643
Locus : Xq22.1
Alt. Genes : FEM1B
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