Aliases for ADAMTSL2 Gene
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 Dysplasia 1 and Geleophysic Dysplasia. Among its related pathways are Diseases associated with O-glycosylation of proteins and Transport to the Golgi and subsequent modification. GO annotations related to this gene include peptidase activity and metalloendopeptidase activity. An important paralog of this gene is THSD4.