KRT83 wt Allele

Preferred Label : KRT83 wt Allele;

NCIt synonyms : KRTHB3; Hard Keratin, Type II, 3 Gene; Keratin 83, Type II Gene; EKVP5; Keratin, Type II Cuticular Hb3 Gene; KB23; HB3; MNLIX; Hb-3; K83; K2.10; Keratin, Hair, Basic, 3 Gene; Keratin 83 wt Allele;

NCIt definition : Human KRT83 wild-type allele is located vicinity of 12q13.13 and is approximately 7 kb in length. This allele, which encodes keratin, type II cuticular Hb3 protein, is involved in the formation of hair and nails. Mutation of the gene is associated with monilethrix and erythrokeratodermia variabilis et progressiva 5.;

NCI Metathesaurus CUI : CL1799049;

GenBank Accession Number : X81420;

Details

Origin ID

C190266;

UMLS CUI

C5780992;

Automatic exact mappings (from CISMeF team)
- Monilethrix [OMIM Phenotype]
OMIM relation
- Keratin 81, type II [OMIM gene]
See also inter- (CISMeF)
- Erythrokeratodermia variabilis et progressiva 5 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Keratin 83, type II [OMIM gene]
- keratin 83 [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]
- Histogenic Process [NCIt concept]
- Keratinization [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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