PCDH19 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PCDH19 wild-type allele is located in the vicinity of Xq22.1 and is approximately 119 kb in length. This allele, which encodes protocadherin-19 protein, plays a role in calcium-dependent cell-cell adhesion. Mutations in the gene are associated with developmental and epileptic encephalopathy 9.

**Synonyms:** - DEE9 - EFMR - EIEE9 - Epilepsy, Female Restricted, With Mental Retardation (Juberg-Hellman Syndrome) Gene - KIAA1313 - Protocadherin 19 wt Allele