HAP1 knockout cell lines

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HAP1 Parental Cell Lines available

ADAMTS2 ( Human )

Entrez Gene 9509 entrezgene 9509
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ADAM metallopeptidase with thrombospondin type 1 motif 2

Alias

ADAM-TS2 | ADAMTS-2 | ADAMTS-3 | NPI | PC I-NP | PCI-NP | PCINP | PCPNI | PNPI

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 encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016].