KRT3 wt Allele

Preferred Label : KRT3 wt Allele;

NCIt synonyms : MECD2; Keratin, Type II Cytoskeletal 3 Gene; KB3; Keratin 3 wt Allele; Cytokeratin 3 Gene; Keratin 3, Type II Gene; K3; CK3;

NCIt definition : Human KRT3 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 3 protein, is involved in corneal development. Mutation of the gene is associated with Meesmann corneal dystrophy 2.;

NCI Metathesaurus CUI : CL1799055;

GenBank Accession Number : NM_057088;

Details

Origin ID

C190214;

UMLS CUI

C5780950;

OMIM relation
- Keratin 3, type II [OMIM gene]
See also inter- (CISMeF)
- Corneal dystrophy, meesmann, 2 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Keratin 3, type II [OMIM gene]
- keratin 3 [ORDO Gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12q13.13 [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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