DCHS1 wt Allele

Preferred Label : DCHS1 wt Allele;

NCIt synonyms : VMLDS1; CDH19; FIB1; Cadherin, Fibroblast, 1 Gene; PCDH16; KIAA1773; Dachsous, Drosophila, Homolog of, 1 Gene; Dachsous Cadherin-Related 1 wt Allele; Dachsous 1 (Drosophila) Gene; CDH25; FLJ11790; CDHR6;

NCIt definition : Human DCHS1 wild-type allele is located in the vicinity of 11p15.4 and is approximately 43 kb in length. This allele, which encodes protocadherin-16 protein, is involved in calcium-mediated cell-cell adhesion and neuroprogenitor cell proliferation and differentiation. Mutation of the gene is associated with mitral valve prolapse 2 and Van Maldergem syndrome 1.;

NCI Metathesaurus CUI : CL514460;

GenBank Accession Number : AB000895;

Details

Origin ID

C131508;

UMLS CUI

C4321438;

Automatic exact mappings (from CISMeF team)
- Cadherin 19 [OMIM gene]
- Dachsous cadherin-related 1 [OMIM gene]
- Van maldergem syndrome 1 [OMIM Phenotype]
- dachsous cadherin-related 1 [ORDO Gene]
OMIM relation
- Dachsous cadherin-related 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11p15.4 [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]
- Nervous System Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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