Aliases for ADAMTS12 Gene
External Ids for ADAMTS12 Gene
Previous GeneCards Identifiers for ADAMTS12 Gene
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-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008]
GeneCards Summary for ADAMTS12 Gene
ADAMTS12 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 12) is a Protein Coding gene. Diseases associated with ADAMTS12 include Brachydactyly, Type A1, B and Intrahepatic Cholestasis Of Pregnancy. Among its related pathways are O-linked glycosylation and O-glycosylation of TSR domain-containing proteins. Gene Ontology (GO) annotations related to this gene include peptidase activity and metalloendopeptidase activity. An important paralog of this gene is ADAMTS7.
UniProtKB/Swiss-Prot Summary for ADAMTS12 Gene
Metalloprotease that may play a role in the degradation of COMP. Cleaves also alpha-2 macroglobulin and aggregan. Has anti-tumorigenic properties.