KRT14 wt Allele

Preferred Label : KRT14 wt Allele;

NCIt synonyms : K14; NFJ; Keratin 14 wt Allele; EBS3; EBS4; CK-14; CK14;

NCIt definition : Human KRT14 wild-type allele is located within 17q12-q21 and is approximately 5 kb in length. This allele, which encodes keratin, type I cytoskeletal 14 protein, plays a role in the regulation of cell morphology. Mutations in this gene are associated with dermatopathia pigmentosa reticularis, Naegeli-Franceschetti-Jadassohn syndrome, and several types of epidermolysis bullosa simplex.;

GenBank Accession Number : NM_000526;

Details

Origin ID

C105982;

UMLS CUI

C3810568;

Automatic exact mappings (from CISMeF team)
- Keratin 14, type I [OMIM gene]
- keratin 14 [ORDO Gene]
OMIM relation
- Keratin 14, type I [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_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) :

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