External Ids for ADAMTSL2 Gene
Previous GeneCards Identifiers for ADAMTSL2 Gene
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, Feb 2009]
GeneCards Summary for ADAMTSL2 Gene
ADAMTSL2 (ADAMTS-Like 2) is a Protein Coding gene. Diseases associated with ADAMTSL2 include geleophysic dwarfism and geleophysic dysplasia 1. Among its related pathways are Transport to the Golgi and subsequent modification and O-linked glycosylation. GO annotations related to this gene include peptidase activity and metalloendopeptidase activity. An important paralog of this gene is ADAMTSL1.