Gene: ADAMTS13

Alternate names for this Gene: ADAM-TS13|ADAMTS-13|C9orf8|VWFCP|vWF-CP

Gene 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.2

Description of this Gene: ADAM metallopeptidase with thrombospondin type 1 motif 13

Type of Gene: protein-coding

rs2073933 in ADAMTS13 gene and Autosomal dominant compelling helio ophthalmic outburst syndrome PMID 29559738 2018 A genome-wide association study on photic sneeze syndrome in a Japanese population.

rs3758349 in ADAMTS13 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs121908467 in ADAMTS13 gene and Congenital Thrombotic Thrombocytopenic Purpura PMID 16449289 2006 Novel compound heterozygote mutations (H234Q/R1206X) of the ADAMTS13 gene in an adult patient with Upshaw-Schulman syndrome showing predominant episodes of repeated acute renal failure.

PMID 16453338 2006 Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity.

PMID 16160007 2006 Modulation of ADAMTS13 secretion and specific activity by a combination of common amino acid polymorphisms and a missense mutation.

PMID 16796708 2006 Novel ADAMTS-13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura.

PMID 14563640 2004 Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome.

PMID 19055667 2009 Pregnancy-induced thrombocytopenia and TTP, and the risk of fetal death, in Upshaw-Schulman syndrome: a series of 15 pregnancies in 9 genotyped patients.

PMID 16807643 2006 A common origin of the 4143insA ADAMTS13 mutation.

PMID 12614216 2003 ADAMTS13 gene defects in two brothers with constitutional thrombotic thrombocytopenic purpura and normalization of von Willebrand factor-cleaving protease activity by recombinant human ADAMTS13.

PMID 15126318 2004 Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura.

PMID 17003922 2006 In-vitro and in-vivo consequences of mutations in the von Willebrand factor cleaving protease ADAMTS13 in thrombotic thrombocytopenic purpura.

PMID 12753286 2003 Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency.

PMID 14512317 2004 Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13.

PMID 12393505 2003 von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP.

PMID 11586351 2001 Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura.

PMID 15009458 2004 Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome).

PMID 19116307 2009 The first deletion mutation in the TSP1-6 repeat domain of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura.

PMID 22075512 2011 A novel homozygous missense ADAMTS13 mutation Y658C in a patient with recurrent thrombotic thrombocytopenic purpura.

PMID 18443791 2008 A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13.

PMID 12181489 2002 Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity.

PMID 15327386 2004 Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS).

PMID 14512317 2004 We have studied a patient with congenital TTP who is a compound heterozygote for the Thr196Ile mutation in the metalloproteinase domain and a frameshift mutation (4143-4144insA) in the second CUB domain that results in loss of the last 49 amino acids of the protein.

PMID 22529288 2012 Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura.

PMID 18031293 2008 The high prevalence of R1060W ADAMTS-13 in adult onset TTP, together with its absence in childhood congenital TTP cases reported elsewhere, suggests it may be a factor in the development of late onset TTP.

PMID 19047683 2009 A functional calcium-binding site in the metalloprotease domain of ADAMTS13.

PMID 25934476 2015 Genetic variants in the ADAMTS13 and SUPT3H genes are associated with ADAMTS13 activity.

PMID 20647566 2010 The ADAMTS13 metalloprotease domain: roles of subsites in enzyme activity and specificity.

PMID 25442981 2015 Our data indicate that the p.D187H mutation impairs ADAMTS13 activity and secretion and is responsible for TTP onset in mice.

PMID 23648131 2013 Next-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosis.

PMID 26081109 2015 Incidence of obstetrical thrombotic thrombocytopenic purpura in a retrospective study within thrombocytopenic pregnant women. A difficult diagnosis and a treatable disease.

PMID 27802307 2016 Next-Generation Sequencing and In Vitro Expression Study of ADAMTS13 Single Nucleotide Variants in Deep Vein Thrombosis.

PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

PMID 14597993 2003 ADAMTS 13 genotype and vWF protease activity in an Italian family with TTP.

PMID 15800115 2005 Complement factor H mutation in familial thrombotic thrombocytopenic purpura with ADAMTS13 deficiency and renal involvement.

PMID 16449289 2006 Novel compound heterozygote mutations (H234Q/R1206X) of the ADAMTS13 gene in an adult patient with Upshaw-Schulman syndrome showing predominant episodes of repeated acute renal failure.

PMID 21676167 2011 Polymorphisms and mutations of ADAMTS13 in the Japanese population and estimation of the number of patients with Upshaw-Schulman syndrome.

PMID 17187257 2007 ADAMTS13 phenotype in plasma from normal individuals and patients with thrombotic thrombocytopenic purpura.

PMID 17627784 2007 In this study, ADAMTS13 protein expression was investigated in normal kidney and in renal tissue from two TTP patients, with a compound heterozygous mutation (P353L and P457L) and a homozygous mutation (4143insA).

PMID 18481107 2008 Congenital thrombotic thrombocytopenic purpura associated with unilateral moyamoya disease.

rs28446901 in ADAMTS13 gene and Fibroblast Growth Factor 23 Measurement PMID 30217807 2018 Genetic Variants Associated with Circulating Fibroblast Growth Factor 23.

rs28446901 in ADAMTS13 gene and Venous Thromboembolism PMID 31420334 2019 Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.

rs28680325 in ADAMTS13 gene and von Willebrand's factor (lab test) PMID 30586737 2019 Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.