CTSB wt Allele

Preferred Label : CTSB wt Allele;

NCIt synonyms : APPS; CPSB; Cathepsin B wt Allele;

NCIt definition : Human CTSB wild-type allele is located within 8p22 and is approximately 24 kb in length. This allele, which encodes cathepsin B protein, is involved in the cleavage of lysosomal proteins. The CTSB gene is associated with Alzheimer's disease.;

GenBank Accession Number : NM_001908;

Details

Origin ID

C49707;

UMLS CUI

C1705770;

OMIM relation
- Cathepsin b [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_associated_with_disease
- Alzheimer's Disease [NCIt concept]
- Esophageal Adenocarcinoma [NCIt concept]
- Gastric Carcinoma [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 8: 11763044-11739236 [NCIt concept]
gene_in_chromosomal_location
- 8p22 [NCIt concept]
gene_is_element_in_pathway
- Antigen Processing and Presentation Pathway [NCIt concept]
- Lysosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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