PCDH19 (Entrez ID: 57526)

Entrez Gene ID 57526
Official Gene Symbol PCDH19 (GeneCards)
Full name protocadherin 19
Location Xq22.1
Other ids Vega : OTTHUMG00000022000
MIM : 300460
HGNC : HGNC:14270
Ensembl : ENSG00000165194
Other names EFMR, EIEE9
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. 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]


Found 24 variants in this database.