ADAMTS10 wt Allele

Preferred Label : ADAMTS10 wt Allele;

NCIt synonyms : A Disintegrin-Like and Metalloprotease (Reprolysin Type) with Thrombospondin Type 1 Motif, 10 Gene; WMS1; ADAM-TS10; WMS; ADAMTS-10; ADAM Metallopeptidase with Thrombospondin Type 1 Motif 10 wt Allele; A Disintegrin-Like and Metalloprotease with Thrombospondin Type 1 Motif, 10 Gene;

NCIt definition : Human ADAMTS10 wild-type allele is located in the vicinity of 19p13.2 and is approximately 30 kb in length. This allele, which encodes a disintegrin and metalloproteinase with thrombospondin motifs 10 protein, is involved in the organization of connective tissue microfibrils. Mutations in the gene may be associated with autosomal recessive Weill-Marchesani syndrome.;

NCI Metathesaurus CUI : CL1799110;

GenBank Accession Number : AF163762;

Details

Origin ID

C190635;

UMLS CUI

C5780952;

Automatic exact mappings (from CISMeF team)
- ADAM metallopeptidase with thrombospondin type 1 motif 10 [ORDO Gene]
- Weill-marchesani syndrome 1 [OMIM Phenotype]
- Williams-beuren syndrome [OMIM Phenotype]
OMIM relation
- A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 10 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19p13.2 [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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