Gene information for ADAMTS2 (Homo sapiens)
(Information is obtained from NCBI Gene database) |
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: |
Gene position | 178772431 - 178537852 Map Viewer |
OMIM ID | 604539 |