KRT9 wt Allele

Preferred Label : KRT9 wt Allele;

NCIt synonyms : K9; CK-9; Type I Cytoskeletal 9 Gene; Keratin 9, Type I Gene; Keratin, Type I Cytoskeletal 9 Gene; Cytokeratin 9 Gene; Epidermolytic Palmoplantar Keratoderma Gene; KA9; EPPK; Keratin 9 wt Allele;

NCIt definition : Human KRT9 wild-type allele is located in the vicinity of 17q21.2 and is approximately 6 kb in length. This allele, which encodes keratin, type I cytoskeletal 9 protein, plays a role in intermediate filament functions in the epidermis of the palms and soles. Mutations in the gene are associated with epidermolytic palmoplantar keratoderma.;

NCI Metathesaurus CUI : CL1799038;

GenBank Accession Number : NM_000226;

Details

Origin ID

C190250;

UMLS CUI

C5780729;

Automatic exact mappings (from CISMeF team)
- Epidermolytic palmoplantar keratoderma [ORDO Disease]
OMIM relation
- Keratin 9, type I [OMIM gene]
See also inter- (CISMeF)
- Palmoplantar keratoderma, epidermolytic [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Keratin 9, type I [OMIM gene]
- keratin 9 [ORDO Gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q21.2 [NCIt concept]
gene_plays_role_in_process
- Cell Movement Process [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Histogenic Process [NCIt concept]
- Keratinization [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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