ADAMTS9 Chromosome 3
ADAM metallopeptidase with thrombospondin type 1 motif 9
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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
RS140793506
Conflicting classifications of pathogenicity
Health Risk
RS149188165
Conflicting classifications of pathogenicity
Health Risk
RS150552517
Conflicting classifications of pathogenicity
Health Risk
RS192420947
Conflicting classifications of pathogenicity
Nephronophthisis, Nephronophthisis
Health Risk
RS374354849
Conflicting classifications of pathogenicity
Health Risk
RS2106648140
Likely pathogenic
Nephronophthisis, Nephronophthisis
Health Risk
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 |