Aliases for THSD4 Gene
External Ids for THSD4 Gene
Previous GeneCards Identifiers for THSD4 Gene
GeneCards Summary for THSD4 Gene
THSD4 (Thrombospondin Type 1 Domain Containing 4) is a Protein Coding gene. Diseases associated with THSD4 include Ectopia Lentis 1, Isolated, Autosomal Dominant and Ectopia Lentis 2, Isolated, Autosomal Recessive. Among its related pathways are O-glycosylation of TSR domain-containing proteins and TGF-beta signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include peptidase activity and metalloendopeptidase activity. An important paralog of this gene is ADAMTSL4.
UniProtKB/Swiss-Prot Summary for THSD4 Gene
Promotes FBN1 matrix assembly. Attenuates TGFB signaling, possibly by accelerating the sequestration of large latent complexes of TGFB or active TGFB by FBN1 microfibril assembly, thereby negatively regulating the expression of TGFB regulatory targets, such as POSTN (By similarity).