KRT5 wt Allele

Preferred Label : KRT5 wt Allele;

NCIt synonyms : CK5; Keratin 5 (Epidermolysis Bullosa Simplex, Dowling-Meara/Kobner/Weber-Cockayne Types) Gene; KRT5A; EBS2; Epidermolysis Bullosa Simplex 2 Dowling-Meara/Kobner/Weber-Cockayne Types Gene; DDD; Keratin 5 wt Allele; K5; DDD1; Keratin 5, Type II Gene;

NCIt definition : Human KRT5 wild-type allele is located in the vicinity of 12q13.13 and is approximately 6 kb in length. This allele, which encodes keratin, type II cytoskeletal 5 protein, plays a role in the formation of the epidermis. Mutation of the gene is associated with Dowling-Degos disease and several subtypes of epidermolysis bullosa simplex.;

GenBank Accession Number : NM_000424;

Details

Origin ID

C105680;

UMLS CUI

C3810570;

Automatic exact mappings (from CISMeF team)
- Dowling-Degos disease [MeSH Supplementary Concept]
- Dowling-degos disease 1 [OMIM Phenotype]
- Keratin 5, type II [OMIM gene]
- Mitotane (substance) [SNOMED CT concept]
- dichlorodiphenyldichloroethane [MeSH Descriptor]
- keratin 5 [ORDO Gene]
OMIM relation
- Keratin 5, type II [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_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12q13.13 [NCIt concept]
gene_is_element_in_pathway
- Glucocorticoid Receptor Regulatory Network [NCIt concept]
gene_plays_role_in_process
- Cell Movement Process [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Keratinization [NCIt concept]
- Organogenesis [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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