CST3 wt Allele

Preferred Label : CST3 wt Allele;

NCIt synonyms : Cystatin C wt Allele; Cystatin C (Amyloid Angiopathy and Cerebral Hemorrhage) Gene; MGC117328; ARMD11;

NCIt definition : Human CST3 wild-type allele is located in the vicinity of 20p11.21 and is approximately 4 kb in length. This allele, which encodes cystatin-C protein, plays a role in the regulation of cysteine protease activity. Mutation of the gene is associated with both amyloidosis type 6 and age-related macular degeneration type 11.;

GenBank Accession Number : NM_000099;

Details

Origin ID

C88357;

UMLS CUI

C2981875;

OMIM relation
- Cystatin 3 [OMIM gene]
See also inter- (CISMeF)
- age related macular degeneration 11 [DO Concept]
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
- Age-Related Macular Degeneration [NCIt concept]
- Amyloidosis [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Enzyme Inhibition [NCIt concept]
- Regulation of Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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