{"symbol":"PCDH19","synonyms":["EIEE9","EFMR"],"name":"protocadherin 19","description":"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]","ncbiEntrezGeneId":57526,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/57526","proteins":[{"symbol":"PCD19_HUMAN","href":"/api/1.0/protein/PCD19_HUMAN"}],"hgncRootFamilies":[{"name":"Cadherins","href":"/api/1.0/gene_family/Cadherins"}]}