Aliases for ADAMTS4 Gene
External Ids for ADAMTS4 Gene
Previous GeneCards Identifiers for ADAMTS4 Gene
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of this 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 enzyme encoded by this gene lacks a C-terminal TS motif. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The expression of this gene is upregulated in arthritic disease and this may contribute to disease progression through the degradation of aggrecan. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
GeneCards Summary for ADAMTS4 Gene
ADAMTS4 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 4) is a Protein Coding gene. Diseases associated with ADAMTS4 include Chondrosarcoma. 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 metallopeptidase activity. An important paralog of this gene is ADAMTS1.
UniProtKB/Swiss-Prot for ADAMTS4 Gene
Cleaves aggrecan, a cartilage proteoglycan, and may be involved in its turnover. May play an important role in the destruction of aggrecan in arthritic diseases. Could also be a critical factor in the exacerbation of neurodegeneration in Alzheimer disease. Cleaves aggrecan at the 392-Glu- -Ala-393 site.