KRT10 wt Allele

Preferred Label : KRT10 wt Allele;

NCIt synonyms : Keratin 10 wt Allele; Epidermolytic Hyperkeratosis Gene; BCIE; BIE; CK-10; CK10; EHK; K10; KPP;

NCIt definition : Human KRT10 wild-type allele is located in the vicinity of 17q21 and is approximately 4 kb in length. This allele, which encodes keratin, type I cytoskeletal 10 protein, is involved in the intermediate filament structure of terminally differentiated epidermal cells. Mutations in this gene are associated with epidermolytic hyperkeratosis, ichthyosis with confetti, and cyclic ichthyosis with epidermolytic hyperkeratosis.;

GenBank Accession Number : NM_000421;

Details

Origin ID

C112152;

UMLS CUI

C3810565;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant epidermolytic ichthyosis [ORDO Disease]
- Bullous ichthyosiform erythroderma (disorder) [SNOMED CT concept]
- Epidermolytic hyperkeratosis 1 [OMIM Phenotype]
- Keratin 10, type I [OMIM gene]
- Vaccin BCG [UNVA Valence]
- hyperkeratosis, epidermolytic [MeSH Descriptor]
- keratin 10 [ORDO Gene]
- mycobacterium bovis [MeSH Descriptor]
False automatic mappings
- BCG (BACILLUS CALMETTE-GUÉRIN) BACTERIA [SMS substance]
OMIM relation
- Keratin 10, type I [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_plays_role_in_process
- Cell Movement Process [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Keratinization [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

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