KRT1 wt Allele

Preferred Label : KRT1 wt Allele;

NCIt synonyms : Epidermolytic Hyperkeratosis 1 Gene; EHK; EPPK; Keratin 1 wt Allele; K1; KRT1A; EHK1; CK1; NEPPK;

NCIt definition : Human KRT1 wild-type allele is located within 12q12-q13 and is approximately 6 kb in length. This allele, which encodes keratin, type II cytoskeletal 1 protein, plays a role in the regulation of epidermal development. Mutation of the gene is associated with bullous congenital ichthyosiform erythroderma, ichthyosis hystrix Curth-Macklin type, palmoplantar keratoderma non-epidermolytic, ichthyosis annular epidermolytic and palmoplantar keratoderma striate type 3.;

GenBank Accession Number : X69725;

Détails

Origin ID

C96455;

UMLS CUI

C3272787;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) [SNOMED CT concept]
- Autosomal dominant epidermolytic ichthyosis [ORDO Disease]
- Casein kinase I, alpha-1 [OMIM gene]
- Epidermolytic hyperkeratosis 1 [OMIM Phenotype]
- Epidermolytic palmoplantar keratoderma [ORDO Disease]
- Keratin 1, type II [OMIM gene]
- Non-epidermolytic palmoplantar keratoderma [ORDO Disease]
- Palmoplantar keratoderma, epidermolytic, 1 [OMIM Phenotype]
- Palmoplantar keratoderma, nonepidermolytic [OMIM Phenotype]
- keratin 1 [ORDO Gene]
- keratin 16 [ORDO Gene]
- keratin 9 [ORDO Gene]
OMIM relation
- Keratin 1, 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
- 12q12-q13 [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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