Gene: CACFD1

Alternate names for this Gene: C9orf7|D9S2135|FLOWER

Gene Summary:

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.2

Description of this Gene: calcium channel flower domain containing 1

Type of Gene: protein-coding

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

rs281875308 in CACFD1;ADAMTS13 gene and Congenital Thrombotic Thrombocytopenic Purpura PMID 19116307 2009 The first deletion mutation in the TSP1-6 repeat domain of ADAMTS13 in a family with inherited 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 15009458 2004 Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome).

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

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

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

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

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

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

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

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

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

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

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

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