Aliases for ADAMTSL4 Gene
External Ids for ADAMTSL4 Gene
Previous HGNC Symbols for ADAMTSL4 Gene
Previous GeneCards Identifiers for ADAMTSL4 Gene
This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Sep 2014]
GeneCards Summary for ADAMTSL4 Gene
ADAMTSL4 (ADAMTS Like 4) is a Protein Coding gene. Diseases associated with ADAMTSL4 include Ectopia Lentis Et Pupillae and Ectopia Lentis 2, Isolated, Autosomal Recessive. 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 protease binding. An important paralog of this gene is THSD4.
UniProtKB/Swiss-Prot Summary for ADAMTSL4 Gene
Positive regulation of apoptosis. May facilitate FBN1 microfibril biogenesis.