KRT16 wt Allele

Preferred Label : KRT16 wt Allele;

NCIt synonyms : CK16; FNEPPK; KRT16A; K16; K1CP; NEPPK; Keratin 16 wt Allele; PC1; Focal Non-Epidermolytic Palmoplantar Keratoderma Gene;

NCIt definition : Human KRT16 wild-type allele is located in the vicinity of 17q21.2 and is approximately 6 kb in length. This allele, which encodes keratin, type I cytoskeletal 16 protein, is involved in epidermal and hair follicle maturation. Mutation of the gene is associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus.;

GenBank Accession Number : S79867;

Détails

Origin ID

C118929;

UMLS CUI

C3889435;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) [SNOMED CT concept]
- Ectonucleotide pyrophosphatase/phosphodiesterase 1 [OMIM gene]
- Keratin 16, type I [OMIM gene]
- Non-epidermolytic palmoplantar keratoderma [ORDO Disease]
- PC1 (body structure) [SNOMED CT concept]
- Pachyonychia congenita 1 [OMIM Phenotype]
- Palmoplantar keratoderma, nonepidermolytic [OMIM Phenotype]
- Palmoplantar keratoderma, nonepidermolytic, focal 1 [OMIM Phenotype]
- Proprotein convertase 1 (substance) [SNOMED CT concept]
- Proprotein convertase, subtilisin/kexin-type, 1 [OMIM gene]
- focal nonepidermolytic palmoplantar keratoderma [DO Concept]
- hyperkeratosis of the palms and soles and esophageal papillomas [MeSH Supplementary Concept]
- keratin 16 [ORDO Gene]
- proprotein convertase subtilisin/kexin type 1 [ORDO Gene]
OMIM relation
- Keratin 16, 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_in_chromosomal_location
- 17q21.2 [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]
- Protein-Protein Interaction [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

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