Gene: ADAMTS4

Alternate names for this Gene: ADAMTS-2|ADAMTS-4|ADMP-1

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q23.3

Description of this Gene: ADAM metallopeptidase with thrombospondin type 1 motif 4

Type of Gene: protein-coding

rs4233366 in ADAMTS4 gene and Asthma PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.