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ADAMTS2 is 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 multiple transcript variants.
Gene Name: | ADAM metallopeptidase with thrombospondin type 1 motif, 2 |
Family/Subfamily: | Protease , Metallopeptidase M12B |
Synonyms: | ADAMTS2, ADAM-TS 2, ADAMTS-2, ADAMTS-3, ADAMSTS3, ADAM-TS2, HPCPNI, NPI, PCI-NP, Procollagen I N-proteinase, Procollagen N-endopeptidase, Procollagen n-proteinase, PC I-NP, PNPI, PCINP, PCPNI |
Target Sequences: | NM_014244 AAI11460.1 O95450 |
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