Gene: ADAMTS5

Alternate names for this Gene: ADAM-TS 11|ADAM-TS 5|ADAM-TS5|ADAMTS-11|ADAMTS-5|ADAMTS11|ADMP-2

Gene Summary: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the 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 encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs and functions as an aggrecanase that cleaves aggrecan, a major proteoglycan of cartilage, and may mediate cartilage destruction in osteoarthritis.

Gene is located in Chromosome: 21

Location in Chromosome : 21q21.3

Description of this Gene: ADAM metallopeptidase with thrombospondin type 1 motif 5

Type of Gene: protein-coding

rs2249350 in ADAMTS5 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs2249350 in ADAMTS5 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.