Gene: ADAMTS9

Alternate names for this Gene: -

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. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing.

Gene is located in Chromosome: 3

Location in Chromosome : 3p14.1

Description of this Gene: ADAM metallopeptidase with thrombospondin type 1 motif 9

Type of Gene: protein-coding

rs9866261 in ADAMTS9 gene and Asthma PMID 26620591 2016 Genome-wide association study in Spanish identifies ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), as a novel asthma susceptibility gene.

rs11714364 in ADAMTS9 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs11718560 in ADAMTS9 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.