CTSK wt Allele

Preferred Label : CTSK wt Allele;

NCIt synonyms : PKND; CTSO1; CTSO2; CTS02; Cathepsin K (Pycnodysostosis) Gene; Cathepsin K wt Allele; PYCD; Cathepsin O1 Gene; CTSO; MGC23107;

NCIt definition : Human CTSK wild-type allele is located in the vicinity of 1q21 and is approximately 12 kb in length. This allele, which encodes cathepsin K protein, plays a role in the regulation of both proteolysis and osteoclastic bone resorption. Mutation of the gene is associated with pycnodysostosis.;

GenBank Accession Number : BC016058;

Details

Origin ID

C90321;

UMLS CUI

C2983554;

OMIM relation
- Cathepsin k [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
- 1q21 [NCIt concept]
gene_is_element_in_pathway
- Lysosome Assembly Pathway [NCIt concept]
- Toll-Like Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Bone Remodeling [NCIt concept]
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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