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ADAMTSL2
ADAMTS-like 2
ADAMTSL2 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.
| Gene Name: | ADAMTS-like 2 |
| Synonyms: | ADAMTSL2, ADAMTS-like protein 2, ADAMTS-like 2, ADAMTSL-2, GPHYSD1, KIAA0605 |
| Target Sequences: | NM_014694 NP_055509.2 Q86TH1 |
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