ADAMTS17 Chromosome 15
ADAM metallopeptidase with thrombospondin type 1 motif 17
Upload your DNA to see your personal genotypes for variants in ADAMTS17.
What This Gene Does
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members 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 protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016]
Gene Info
Gene Group
ADAM metallopeptidases with thrombospondin type 1 motif
Locus Type
gene with protein product
Location
15q26.3
Ensembl
ENSG00000140470
Associated Conditions (6)
Weill-Marchesani 4 syndrome
recessive
Inborn genetic diseases
ADAMTS17-related disorder
Ovarian serous cystadenocarcinoma
Anterior segment dysgenesis
Key Variants
RS1360871464
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
Health Risk
RS139059770
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
Health Risk
RS139105066
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
Health Risk
RS140930935
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Inborn genetic diseases
Health Risk
RS141373128
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, ADAMTS17-related disorder
Health Risk
RS143480636
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143817747
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, ADAMTS17-related disorder
Health Risk
RS143891379
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
Health Risk
RS143896591
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
Health Risk
RS144007074
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
Health Risk
RS144662002
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
Health Risk
RS1447997408
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
Health Risk
All Variants (111)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2548794622 | Health Risk | Pathogenic | — |
| RS2548797919 | Health Risk | Pathogenic | — |
| RS2548847433 | Health Risk | Pathogenic | — |
| RS2548993714 | Health Risk | Pathogenic | — |
| RS2548994018 | Health Risk | Pathogenic | — |
| RS267606638 | Health Risk | Pathogenic | Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome |
| RS369489185 | Health Risk | Pathogenic | Anterior segment dysgenesis, Anterior segment dysgenesis |
| RS387906291 | Health Risk | Pathogenic | Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome |
| RS1029322575 | Health Risk | Pathogenic/Likely pathogenic | Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome |
| RS749116256 | Health Risk | Pathogenic/Likely pathogenic | Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome |
| RS780563389 | Health Risk | Pathogenic/Likely pathogenic | Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome |