KRT17 wt Allele

Preferred Label : KRT17 wt Allele;

NCIt synonyms : K17; PC; Keratin 17 wt Allele; PC2; PCHC1; 39.1; CK-17;

NCIt definition : Human KRT17 wild-type allele is located in the vicinity of 17q21.2 and is approximately 5 kb in length. This allele, which encodes keratin, type I cytoskeletal 17 protein, is involved in the formation of hair follicles and sebaceous glands. Mutations in this gene are associated with Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex.;

GenBank Accession Number : NM_000422;

Details

Origin ID

C105978;

UMLS CUI

C3810569;

Automatic exact mappings (from CISMeF team)
- CK 17 [MeSH Supplementary Concept]
- CK 17 [MeSH concept]
- CKS 17 [MeSH concept]
- CKS 17 [MeSH Supplementary Concept]
- Chromobox 4 [OMIM gene]
- Keratin 17, type I [OMIM gene]
- PC2 (body structure) [SNOMED CT concept]
- Pachyonychia congenita [ORDO Disease]
- Pachyonychia congenita 2 [OMIM Phenotype]
- Podocalyxin-like [OMIM gene]
- Polycystin 2 [OMIM gene]
- Proprotein convertase 2 (substance) [SNOMED CT concept]
- Proprotein convertase, subtilisin/kexin-type, 2 [OMIM gene]
- Protein C [OMIM gene]
- Pyruvate carboxylase [OMIM gene]
- Pyruvate carboxylase [LOINC component]
- keratin 17 [ORDO Gene]
- microcomputers [MeSH Descriptor]
- paracentral nucleus [UBERON concept]
- planar chromatography [IUPAC Term]
- podocalyxin like [ORDO Gene]
- polycystin 2, transient receptor potential cation channel [ORDO Gene]
- pyruvate carboxylase [ORDO Gene]
- pyruvate carboxylase [MeSH Descriptor]
- unconsciousness [MeSH Descriptor]
OMIM relation
- Keratin 17, 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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