ARVCF wt Allele

Preferred Label : ARVCF wt Allele;

NCIt synonyms : Armadillo Repeat Gene Deleted in Velocardiofacial Syndrome Gene; FLJ35345; Armadillo Repeat Gene Deleted in VCFS; ARVCF Delta Catenin Family Member wt Allele;

NCIt definition : Human ARVCF wild-type allele is located in the vicinity of 22q11.21 and is approximately 47 kb in length. This allele, which encodes splicing regulator ARVCF protein, plays a role in mRNA splicing and cell-cell adhesion. Mutation of the gene is associated with velo-cardio-facial syndrome.;

NCIt note : A SNP for the ARVCF gene may be a prognostic marker for prostate cancer. (Cancer Epidemiol Biomarkers Prev. 2011; 20: 1928-1936.);

GenBank Accession Number : NM_001670;

Details

Origin ID

C101341;

UMLS CUI

C3542483;

Automatic exact mappings (from CISMeF team)
- Arvcf delta catenin family member [OMIM gene]
OMIM relation
- Arvcf delta catenin family member [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 22q11.21 [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell-Cell Adhesion Process [NCIt concept]
- Developmental Process [NCIt concept]
- Ligand Binding [NCIt concept]
- RNA Splicing [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients