PCDH19, Official Symbol PCDH19provided by HGNC Official Full Name protocadherin 19provided by HGNC Primary source HGNC:HGNC:14270 See related Ensembl:ENSG00000165194 MIM:300460; AllianceGenome:HGNC:14270 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEE9; 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] Expression Biased expression in brain (RPKM 4.4), fat (RPKM 1.2) and 8 other tissues See more Orthologs mouse all