A2M wt Allele - CISMeF

Preferred Label : A2M wt Allele;

NCIt synonyms : S863-7; Alpha-2-Macroglobulin wt Allele; FWP007; A2MD; CPAMD5;

NCIt definition : Human A2M wild-type allele is located in the vicinity of 12p13.31 and is approximately 49 kb in length. This allele, which encodes alpha-2-macroglobulin protein, plays a role in various processes as a protease inhibitor. Mutations in this gene are associated with alpha-2-macroglobulin deficiency and susceptibility to Alzheimer disease.;

GenBank Accession Number : NM_000014;

Details

Origin ID

C105923;

UMLS CUI

C3810651;

Automatic exact mappings (from CISMeF team)
- Alpha-2-macroglobulin deficiency [OMIM Phenotype]
OMIM relation
- Alpha-2-macroglobulin [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
- Enzyme Inhibition [NCIt concept]
- Regulation of Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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