Protein Name | ADAM metallopeptidase with thrombospondin type 1 motif 2 |
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Organism | Homo sapiens |
Gene ID | 9509 |
Gene Symbol | ADAMTS2 |
UniProt | O95450 (ATS2_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
37
Total Number of Articles : 29 |
Description |
ADAM metallopeptidase with thrombospondin type 1 motif 2 |
Gene Summary |
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] |
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