ADAMTS13 Chromosome 9
ADAM metallopeptidase with thrombospondin type 1 motif 13
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What This Gene Does
This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
ADAM metallopeptidases with thrombospondin type 1 motif
Locus Type
gene with protein product
Location
9q34.2
Ensembl
ENSG00000160323
Associated Conditions (11)
Upshaw-Schulman syndrome
Inborn genetic diseases
ADAMTS13-related disorder
Thrombus
See cases
Ovarian serous cystadenocarcinoma
Cervical cancer
Atypical hemolytic-uremic syndrome
Thrombotic thrombocytopenic purpura
Thrombocytopenia
Abnormal bleeding
Key Variants
RS11575933
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
Health Risk
RS1183963868
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138014548
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
Health Risk
RS138489501
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
Health Risk
RS138699340
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Inborn genetic diseases, Upshaw-Schulman syndrome
Health Risk
RS139214644
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Inborn genetic diseases, ADAMTS13-related disorder
Health Risk
RS1393965473
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
Health Risk
RS139951127
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
Health Risk
RS140628579
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
Health Risk
RS140639242
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Thrombus, ADAMTS13-related disorder
Health Risk
RS141811556
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
Health Risk
RS142214608
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
Health Risk
All Variants (166)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS782818582 | Health Risk | Pathogenic | — |
| RS786205077 | Health Risk | Pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS786205078 | Health Risk | Pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS1057520680 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS121908469 | Health Risk | Pathogenic/Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS121908472 | Health Risk | Pathogenic/Likely pathogenic | Upshaw-Schulman syndrome, Thrombotic thrombocytopenic purpura, Upshaw-Schulman syndrome |
| RS1376759965 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS142572218 | Health Risk | Pathogenic/Likely pathogenic | Upshaw-Schulman syndrome, Thrombotic thrombocytopenic purpura, ADAMTS13-related disorder |
| RS1564422441 | Health Risk | Pathogenic/Likely pathogenic | ADAMTS13-related disorder, ADAMTS13-related disorder |
| RS1840016313 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS281875288 | Health Risk | Pathogenic/Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS281875338 | Health Risk | Pathogenic/Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS281875340 | Health Risk | Pathogenic/Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS370121816 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS375415632 | Health Risk | Pathogenic/Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS903245146 | Health Risk | Pathogenic/Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |