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PCDH19
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For Research Use Only. Not For Clinical Use.
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.[provided by RefSeq, May 2010]
Protein class
Disease related genes, Human disease related genes
Predicted location
Intracellular, Membrane (different isoforms)
Single cell type specificity
Cell type enhanced (Inhibitory neurons, Oligodendrocyte precursor cells, Adipocytes, Excitatory neurons)
Immune cell specificity
Not detected in immune cells
Cell line specificity
Cell line enriched (AF22)
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