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This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene excises the N-propeptide of type I, type II and type V procollagens. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in two transcript variants. The short transcript encodes a protein which has no significant procollagen N-peptidase activity.
a disintegrin and metalloproteinase; A disintegrin and metalloproteinase with thrombospondin motifs 2; a disintegrin and metalloproteinase with thrombospondin repeats; a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 2; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2; ADAM; ADAM metallopeptidase with thrombospondin type 1 motif 2; ADAM metallopeptidase with thrombospondin type 1 motif, 2; ADAMs; ADAM-TS 2; ADAMTS2; ADAM-TS2; ADAMTS-2; ADAMTS-3; hPCPNI; metalloendopeptidases; mKIAA4060; NPI; PC I-NP; PCINP; PCI-NP; PCPNI; PNPI; Procollagen I N-proteinase; procollagen I/II amino propeptide-processing enzyme; Procollagen N-endopeptidase; procollagen N-proteinase; RGD1565950
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100 µg
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