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PCDH19 - protocadherin 19

  • Synonym(s) : EIEE9, KIAA1313
  • Previous symbols and names : EFMR, epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)
  • Type : gene with protein product
  • Chromosomal location : Xq22.1
  • OMIM: 300460
  • HGNC: 14270
  • UniProtKB: Q8TAB3
  • Genatlas: PCDH19
  • Ensembl: ENSG00000165194
  • IUPHAR-DB: -
  • Reactome: -
  • LOVD: PCDH19

Diseases list

  : Assessed

Additional information

Health care resources for this gene

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.