CDH3 wt Allele

Preferred Label : CDH3 wt Allele;

NCIt synonyms : HJMD; PCAD; Calcium-Dependent Adhesion Protein, Placental Gene; CDHP; Cadherin 3 wt Allele; Cadherin, Placental Gene; Cadherin 3, P-Cadherin (Placental) Gene; Cadherin 3, Type 1, P-Cadherin (Placental) Gene;

NCIt definition : Human CDH3 wild-type allele is located in the vicinity of 16q22.1 and is approximately 54 kb in length. This allele, which encodes cadherin-3 protein, is involved in calcium-dependent cell-cell adhesion. Mutations in this gene have been associated with congential hypotrichosis and juvenile macular dystrophy.;

NCIt note : The gene is located in a six-cadherin cluster region involved in loss of heterozygosity in breast and prostate cancer. Aberrant expression is observed in cervical adenocarcinomas. Hypotrichosis with juvenile macular dystrophy is caused by homozygous deletion of an exon 8 guanine nucleotide that introduces a premature downstream termination codon. Mutant expression is reduced in the skin.;

GenBank Accession Number : NM_001793;

Details

Origin ID

C51152;

UMLS CUI

C1705437;

OMIM relation
- Cadherin 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Cervical Adenocarcinoma [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 16: 67236277-67290443 [NCIt concept]
gene_in_chromosomal_location
- 16q22.1 [NCIt concept]
gene_is_element_in_pathway
- Cell Adhesion Molecule Signaling Pathway [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) :

You can consult :

recommendations
documents concerning education
documents for patients