PCDH19 wt Allele

Preferred Label : PCDH19 wt Allele;

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

NCIt 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.;

NCI Metathesaurus CUI : CL1926755;

GenBank Accession Number : AB037734;

Details

Origin ID

C204190;

UMLS CUI

C5890971;

OMIM relation
- Protocadherin 19 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xq22.1 [NCIt concept]
gene_plays_role_in_process
- Calcium Binding [NCIt concept]
- Cell Adhesion Process [NCIt concept]
- Cell-Cell Adhesion Process [NCIt concept]
- Ligand Binding [NCIt concept]

Keyword's position in hierarchy(ies) :

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