ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13
Gene ID: 11093, updated on 22-Apr-2024Gene type: protein coding
Also known as: VWFCP; C9orf8; vWF-CP; ADAM-TS13; ADAMTS-13
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- Go to complete Gene record for ADAMTS13
- Go to Variation Viewer for ADAMTS13 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. GeneReviews: Not available | |
| Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. GeneReviews: Not available | |
| Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association. GeneReviews: Not available | |
| Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. GeneReviews: Not available | |
| Upshaw-Schulman syndrome | See labs |
Genomic context
- Location:
- 9q34.2
- Sequence:
- Chromosome: 9; NC_000009.12 (133414337..133459386)
- Total number of exons:
- 32
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ADAMTS13 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ADAMTS13 database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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