KRT8 wt Allele

Preferred Label : KRT8 wt Allele;

NCIt synonyms : K8; CK8; CK-8; K2C8; CARD2; CYK8; KO; Keratin 8 wt Allele; Keratin 8, Type II Gene;

NCIt definition : Human KRT8 wild-type allele is located in the vicinity of 12q13 and is approximately 53 kb in length. This allele, which encodes keratin, type II cytoskeletal 8 protein, plays a role in the structure of striated muscle and simple epithelia. Mutation of the gene is associated with cryptogenic cirrhosis.;

NCI Metathesaurus CUI : CL508025;

GenBank Accession Number : BC000654;

Details

Origin ID

C126963;

UMLS CUI

C4284124;

Automatic exact mappings (from CISMeF team)
- Blood group--kell system [OMIM Phenotype]
- Keratin 8, type II [OMIM gene]
- nucleolar protein 3 [ORDO Gene]
OMIM relation
- Keratin 8, 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
- 12q13 [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]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients