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C192021Level 7

ADAMTS2 wt Allele

**Semantic type:** Gene or Genome

**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).

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

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