Aliases for ADAMTSL1 Gene
External Ids for ADAMTSL1 Gene
Previous HGNC Symbols for ADAMTSL1 Gene
Previous GeneCards Identifiers for ADAMTSL1 Gene
This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
GeneCards Summary for ADAMTSL1 Gene
ADAMTSL1 (ADAMTS Like 1) is a Protein Coding gene. Diseases associated with ADAMTSL1 include Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome and Thrombotic Thrombocytopenic Purpura. Among its related pathways are Metabolism of proteins and O-glycosylation of TSR domain-containing proteins. Gene Ontology (GO) annotations related to this gene include peptidase activity and metallopeptidase activity. An important paralog of this gene is ADAMTSL3.