Entrez gene ID | | 9719 |
Official gene symbol | | ADAMTSL2 |
Full name | | ADAMTS-like 2 |
Aliases | | ,FLJ45164,KIAA0605, |
Gene summary | | This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like 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 protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq] |
Location | | Chromosome: 9 Locus: 9q34.2 |
Gene position | | 136397286 - 136440641 Map Viewer |
Gene orientation | | plus |
Gene size | | 43356 bp |
Gene sequence |
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OMIM ID | | 612277 |
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