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PCDH19

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)

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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