pcdh19 Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
Description protocadherin 19|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] (NCBI Entrez Gene Database, 57526)
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Genes

2 genes co-occuring with the biological term pcdh19 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
PCDH19 protocadherin 19
SCN1A sodium channel, voltage gated, type I alpha subunit