KRT12 wt Allele

Preferred Label : KRT12 wt Allele;

NCIt synonyms : K12; Keratin 12, Type I Gene; Keratin 12 wt Allele; Cytokeratin 12 Gene; KA12; Keratin, Type I Cytoskeletal 12 Gene; MECD1; Meesmann Corneal Dystrophy Gene; CK-12;

NCIt definition : Human KRT12 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 12 protein, is involved in the structure of intermediate filaments in the anterior corneal epithelium. Mutation of the gene is associated with Meesmann corneal dystrophy 1.;

NCI Metathesaurus CUI : CL1799046;

GenBank Accession Number : NM_000223;

Details

Origin ID

C190257;

UMLS CUI

C5781198;

Automatic exact mappings (from CISMeF team)
- Secreted and transmembrane 1 [OMIM gene]
Currated CISMeF NLP mapping
- Keratin 12, type I [OMIM gene]
- keratin 12 [ORDO Gene]
OMIM relation
- Keratin 12, type I [OMIM gene]
See also inter- (CISMeF)
- Corneal dystrophy, meesmann, 1 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
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]
- Eye Development [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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