MMP13 wt Allele

Preferred Label : MMP13 wt Allele;

NCIt synonyms : CLG3; Matrix Metallopeptidase 13 (Collagenase 3) wt Allele; MANDP1;

NCIt definition : Human MMP13 wild-type allele is located in the vicinity of 11q22.3 and is approximately 13 kb in length. This allele, which encodes collagenase 3 protein, is involved in collagen catabolism. Mutation of the gene is associated with both spondyloepimetaphyseal dysplasia Missouri type and metaphyseal anadysplasia type 1.;

GenBank Accession Number : X75308;

Details

Origin ID

C102922;

UMLS CUI

C3540596;

Automatic exact mappings (from CISMeF team)
- Matrix metalloproteinase 13 [OMIM gene]
- Spondyloepimetaphyseal dysplasia, missouri type [OMIM Phenotype]
- matrix metallopeptidase 13 [ORDO Gene]
- metaphyseal anadysplasia 1 [MeSH Supplementary Concept]
OMIM relation
- Matrix metalloproteinase 13 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11q22.3 [NCIt concept]
gene_plays_role_in_process
- Extracellular Matrix Degradation [NCIt concept]
- Hydrolysis [NCIt concept]
- Metal Ion Binding [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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