ADAMTS9 Chromosome 3

ADAM metallopeptidase with thrombospondin type 1 motif 9
6 variants 6 Health Risk

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What This Gene Does
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. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
ADAM metallopeptidases with thrombospondin type 1 motif
Locus Type
gene with protein product
Location
3p14.1
Ensembl
ENSG00000163638
Associated Conditions (1)
Nephronophthisis
Key Variants
All Variants (6)
RSID Category Clinical Significance Conditions
RS140793506 Health Risk Conflicting classifications of pathogenicity
RS149188165 Health Risk Conflicting classifications of pathogenicity
RS150552517 Health Risk Conflicting classifications of pathogenicity
RS192420947 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS374354849 Health Risk Conflicting classifications of pathogenicity
RS2106648140 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
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