ADAMTS2 wt Allele

Preferred Label : ADAMTS2 wt Allele;

NCIt synonyms : A Disintegrin-Like and Metalloprotease with Thrombospondin Type 1 Motif, 2 Gene; PC I-NP; ADAMTS-2; ADAMTS-3; ADAM-TS2; PNPI; PCINP; PCPNI; PCI-NP; EDSDERMS; A Disintegrin-Like and Metalloprotease (Reprolysin Type) with Thrombospondin Type 1 Motif, 2 Gene; NPI; ADAM Metallopeptidase with Thrombospondin Type 1 Motif 2 wt Allele;

NCIt definition : Human ADAMTS2 wild-type allele is located in the vicinity of 5q35.3 and is approximately 235 kb in length. This allele, which encodes a disintegrin and metalloproteinase with thrombospondin motifs 2 protein, plays a role in procollagen cleavage. Mutation of the gene is associated with dermatosparaxis type Ehlers-Danlos syndrome (Ehlers-Danlos syndrome type VIIC).;

NCI Metathesaurus CUI : CL1905371;

GenBank Accession Number : AJ003125;

Details

Origin ID

C192021;

UMLS CUI

C5780807;

OMIM relation
- A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5q35.3 [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Protein Cleavage [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients