DSG1 wt Allele

Preferred Label : DSG1 wt Allele;

NCIt synonyms : DG1; CDHF4; Cadherin Family Member 4 Gene; DSG; SPPK1; EPKHE; EPKHIA; Desmoglein 1 wt Allele; PPKS1;

NCIt definition : Human DSG1 wild-type allele is located in the vicinity of 18q12.1 and is approximately 41 kb in length. This allele, which encodes desmoglein-1 protein, plays a role in desmosome formation in skin and other epithelium of the mouth and esophagus. Mutation of the gene is associated with autosomal dominant keratosis palmoplantaris striata I and congenital erythroderma with palmoplantar keratoderma, hypotrichosis and hyper IgE.;

NCI Metathesaurus CUI : CL1643482;

GenBank Accession Number : X56654;

Details

Origin ID

C177651;

UMLS CUI

C5443972;

Automatic exact mappings (from CISMeF team)
- Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige [OMIM Phenotype]
- Palmoplantar keratoderma I, striate, focal, or diffuse [OMIM Phenotype]
- desmoglein 1 [ORDO Gene]
OMIM relation
- Desmoglein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Cell-Cell Adhesion Process [NCIt concept]
- Keratinization [NCIt concept]

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