Entrez gene ID | | 9509 |
Official gene symbol | | ADAMTS2 |
Full name | | ADAM metallopeptidase with thrombospondin type 1 motif, 2 |
Aliases | | ,ADAM-TS2,ADAMTS-3,NPI,PCINP,PCPNI,hPCPNI, |
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 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. [provided by RefSeq] |
Location | | Chromosome: 5 Locus: 5qter |
Gene position | | 178772431 - 178537852 Map Viewer |
Gene orientation | | minus |
Gene size | | 234580 bp |
Gene sequence |
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OMIM ID | | 604539 |
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