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Identification
HMDB Protein ID HMDBP07465
Secondary Accession Numbers
  • 13173
Name A disintegrin and metalloproteinase with thrombospondin motifs 13
Synonyms
  1. ADAM-TS 13
  2. ADAM-TS13
  3. ADAMTS-13
  4. vWF-CP
  5. vWF-cleaving protease
  6. von Willebrand factor-cleaving protease
Gene Name ADAMTS13
Protein Type Unknown
Biological Properties
General Function Involved in metalloendopeptidase activity
Specific Function Cleaves the vWF multimers in plasma into smaller forms
Pathways Not Available
Reactions Not Available
GO Classification
Component
extracellular region part
extracellular matrix
proteinaceous extracellular matrix
Function
endopeptidase activity
ion binding
cation binding
metal ion binding
binding
catalytic activity
hydrolase activity
transition metal ion binding
zinc ion binding
metalloendopeptidase activity
peptidase activity
peptidase activity, acting on l-amino acid peptides
metallopeptidase activity
Process
metabolic process
macromolecule metabolic process
protein metabolic process
proteolysis
Cellular Location
  1. Secreted
Gene Properties
Chromosome Location Chromosome:9
Locus 9q34
SNPs ADAMTS13
Gene Sequence
>4284 bp
ATGCACCAGCGTCACCCCCGGGCAAGATGCCCTCCCCTCTGTGTGGCCGGAATCCTTGCC
TGTGGCTTTCTCCTGGGCTGCTGGGGACCCTCCCATTTCCAGCAGAGTTGTCTTCAGGCT
TTGGAGCCACAGGCCGTGTCTTCTTACTTGAGCCCTGGTGCTCCCTTAAAAGGCCGCCCT
CCTTCCCCTGGCTTCCAGAGGCAGAGGCAGAGGCAGAGGCGGGCTGCAGGCGGCATCCTA
CACCTGGAGCTGCTGGTGGCCGTGGGCCCCGATGTCTTCCAGGCTCACCAGGAGGACACA
GAGCGCTATGTGCTCACCAACCTCAACATCGGGGCAGAACTGCTTCGGGACCCGTCCCTG
GGGGCTCAGTTTCGGGTGCACCTGGTGAAGATGGTCATTCTGACAGAGCCTGAGGGTGCT
CCAAATATCACAGCCAACCTCACCTCGTCCCTGCTGAGCGTCTGTGGGTGGAGCCAGACC
ATCAACCCTGAGGACGACACGGATCCTGGCCATGCTGACCTGGTCCTCTATATCACTAGG
TTTGACCTGGAGTTGCCTGATGGTAACCGGCAGGTGCGGGGCGTCACCCAGCTGGGCGGT
GCCTGCTCCCCAACCTGGAGCTGCCTCATTACCGAGGACACTGGCTTCGACCTGGGAGTC
ACCATTGCCCATGAGATTGGGCACAGCTTCGGCCTGGAGCACGACGGCGCGCCCGGCAGC
GGCTGCGGCCCCAGCGGACACGTGATGGCTTCGGACGGCGCCGCGCCCCGCGCCGGCCTC
GCCTGGTCCCCCTGCAGCCGCCGGCAGCTGCTGAGCCTGCTCAGCGCAGGACGGGCGCGC
TGCGTGTGGGACCCGCCGCGGCCTCAACCCGGGTCCGCGGGGCACCCGCCGGATGCGCAG
CCTGGCCTCTACTACAGCGCCAACGAGCAGTGCCGCGTGGCCTTCGGCCCCAAGGCTGTC
GCCTGCACCTTCGCCAGGGAGCACCTGGATATGTGCCAGGCCCTCTCCTGCCACACAGAC
CCGCTGGACCAAAGCAGCTGCAGCCGCCTCCTCGTTCCTCTCCTGGATGGGACAGAATGT
GGCGTGGAGAAGTGGTGCTCCAAGGGTCGCTGCCGCTCCCTGGTGGAGCTGACCCCCATA
GCAGCAGTGCATGGGCGCTGGTCTAGCTGGGGTCCCCGAAGTCCTTGCTCCCGCTCCTGC
GGAGGAGGTGTGGTCACCAGGAGGCGGCAGTGCAACAACCCCAGACCTGCCTTTGGGGGG
CGTGCATGTGTTGGTGCTGACCTCCAGGCCGAGATGTGCAACACTCAGGCCTGCGAGAAG
ACCCAGCTGGAGTTCATGTCGCAACAGTGCGCCAGGACCGACGGCCAGCCGCTGCGCTCC
TCCCCTGGCGGCGCCTCCTTCTACCACTGGGGTGCTGCTGTACCACACAGCCAAGGGGAT
GCTCTGTGCAGACACATGTGCCGGGCCATTGGCGAGAGCTTCATCATGAAGCGTGGAGAC
AGCTTCCTCGATGGGACCCGGTGTATGCCAAGTGGCCCCCGGGAGGACGGGACCCTGAGC
CTGTGTGTGTCGGGCAGCTGCAGGACATTTGGCTGTGATGGTAGGATGGACTCCCAGCAG
GTATGGGACAGGTGCCAGGTGTGTGGTGGGGACAACAGCACGTGCAGCCCACGGAAGGGC
TCTTTCACAGCTGGCAGAGCGAGAGAATATGTCACGTTTCTGACAGTTACCCCCAACCTG
ACCAGTGTCTACATTGCCAACCACAGGCCTCTCTTCACACACTTGGCGGTGAGGATCGGA
GGGCGCTATGTCGTGGCTGGGAAGATGAGCATCTCCCCTAACACCACCTACCCCTCCCTC
CTGGAGGATGGTCGTGTCGAGTACAGAGTGGCCCTCACCGAGGACCGGCTGCCCCGCCTG
GAGGAGATCCGCATCTGGGGACCCCTCCAGGAAGATGCTGACATCCAGGTTTACAGGCGG
TATGGCGAGGAGTATGGCAACCTCACCCGCCCAGACATCACCTTCACCTACTTCCAGCCT
AAGCCACGGCAGGCCTGGGTGTGGGCCGCTGTGCGTGGGCCCTGCTCGGTGAGCTGTGGG
GCAGGGCTGCGCTGGGTAAACTACAGCTGCCTGGACCAGGCCAGGAAGGAGTTGGTGGAG
ACTGTCCAGTGCCAAGGGAGCCAGCAGCCACCAGCGTGGCCAGAGGCCTGCGTGCTCGAA
CCCTGCCCTCCCTACTGGGCGGTGGGAGACTTCGGCCCATGCAGCGCCTCCTGTGGGGGC
GGCCTGCGGGAGCGGCCAGTGCGCTGCGTGGAGGCCCAGGGCAGCCTCCTGAAGACATTG
CCCCCAGCCCGGTGCAGAGCAGGGGCCCAGCAGCCAGCTGTGGCGCTGGAAACCTGCAAC
CCCCAGCCCTGCCCTGCCAGGTGGGAGGTGTCAGAGCCCAGCTCATGCACATCAGCTGGT
GGAGCAGGCCTGGCCTTGGAGAACGAGACCTGTGTGCCAGGGGCAGATGGCCTGGAGGCT
CCAGTGACTGAGGGGCCTGGCTCCGTAGATGAGAAGCTGCCTGCCCCTGAGCCCTGTGTC
GGGATGTCATGTCCTCCAGGCTGGGGCCATCTGGATGCCACCTCTGCAGGGGAGAAGGCT
CCCTCCCCATGGGGCAGCATCAGGACGGGGGCTCAAGCTGCACACGTGTGGACCCCTGCG
GCAGGGTCGTGCTCCGTCTCCTGCGGGCGAGGTCTGATGGAGCTGCGTTTCCTGTGCATG
GACTCTGCCCTCAGGGTGCCTGTCCAGGAAGAGCTGTGTGGCCTGGCAAGCAAGCCTGGG
AGCCGGCGGGAGGTCTGCCAGGCTGTCCCGTGCCCTGCTCGGTGGCAGTACAAGCTGGCG
GCCTGCAGCGTGAGCTGTGGGAGAGGGGTCGTGCGGAGGATCCTGTATTGTGCCCGGGCC
CATGGGGAGGACGATGGTGAGGAGATCCTGTTGGACACCCAGTGCCAGGGGCTGCCTCGC
CCGGAACCCCAGGAGGCCTGCAGCCTGGAGCCCTGCCCACCTAGGTGGAAAGTCATGTCC
CTTGGCCCATGTTCGGCCAGCTGTGGCCTTGGCACTGCTAGACGCTCGGTGGCCTGTGTG
CAGCTCGACCAAGGCCAGGACGTGGAGGTGGACGAGGCGGCCTGTGCGGCGCTGGTGCGG
CCCGAGGCCAGTGTCCCCTGTCTCATTGCCGACTGCACCTACCGCTGGCATGTTGGCACC
TGGATGGAGTGCTCTGTTTCCTGTGGGGATGGCATCCAGCGCCGGCGTGACACCTGCCTC
GGACCCCAGGCCCAGGCGCCTGTGCCAGCTGATTTCTGCCAGCACTTGCCCAAGCCGGTG
ACTGTGCGTGGCTGCTGGGCTGGGCCCTGTGTGGGACAGGGTACGCCCAGCCTGGTGCCC
CACGAAGAAGCCGCTGCTCCAGGACGGACCACAGCCACCCCTGCTGGTGCCTCCCTGGAG
TGGTCCCAGGCCCGGGGCCTGCTCTTCTCCCCGGCTCCCCAGCCTCGGCGGCTCCTGCCC
GGGCCCCAGGAAAACTCAGTGCAGTCCAGTGCCTGTGGCAGGCAGCACCTTGAGCCAACA
GGAACCATTGACATGCGAGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGCCC
CTCGGGGAGGTGGTGACCCTCCGCGTCCTTGAGAGTTCTCTCAACTGCAGTGCGGGGGAC
ATGTTGCTGCTTTGGGGCCGGCTCACCTGGAGGAAGATGTGCAGGAAGCTGTTGGACATG
ACTTTCAGCTCCAAGACCAACACGCTGGTGGTGAGGCAGCGCTGCGGGCGGCCAGGAGGT
GGGGTGCTGCTGCGGTATGGGAGCCAGCTTGCTCCTGAAACCTTCTACAGAGAATGTGAC
ATGCAGCTCTTTGGGCCCTGGGGTGAAATCGTGAGCCCCTCGCTGAGTCCAGCCACGAGT
AATGCAGGGGGCTGCCGGCTCTTCATTAATGTGGCTCCGCACGCACGGATTGCCATCCAT
GCCCTGGCCACCAACATGGGCGCTGGGACCGAGGGAGCCAATGCCAGCTACATCTTGATC
CGGGACACCCACAGCTTGAGGACCACAGCGTTCCATGGGCAGCAGGTGCTCTACTGGGAG
TCAGAGAGCAGCCAGGCTGAGATGGAGTTCAGCGAGGGCTTCCTGAAGGCTCAGGCCAGC
CTGCGGGGCCAGTACTGGACCCTCCAATCATGGGTACCGGAGATGCAGGACCCTCAGTCC
TGGAAGGGAAAGGAAGGAACCTGA
Protein Properties
Number of Residues 1427
Molecular Weight 153603.0
Theoretical pI 7.16
Pfam Domain Function
Signals
  • 1-29
Transmembrane Regions
  • None
Protein Sequence
>A disintegrin and metalloproteinase with thrombospondin motifs 13
MHQRHPRARCPPLCVAGILACGFLLGCWGPSHFQQSCLQALEPQAVSSYLSPGAPLKGRP
PSPGFQRQRQRQRRAAGGILHLELLVAVGPDVFQAHQEDTERYVLTNLNIGAELLRDPSL
GAQFRVHLVKMVILTEPEGAPNITANLTSSLLSVCGWSQTINPEDDTDPGHADLVLYITR
FDLELPDGNRQVRGVTQLGGACSPTWSCLITEDTGFDLGVTIAHEIGHSFGLEHDGAPGS
GCGPSGHVMASDGAAPRAGLAWSPCSRRQLLSLLSAGRARCVWDPPRPQPGSAGHPPDAQ
PGLYYSANEQCRVAFGPKAVACTFAREHLDMCQALSCHTDPLDQSSCSRLLVPLLDGTEC
GVEKWCSKGRCRSLVELTPIAAVHGRWSSWGPRSPCSRSCGGGVVTRRRQCNNPRPAFGG
RACVGADLQAEMCNTQACEKTQLEFMSQQCARTDGQPLRSSPGGASFYHWGAAVPHSQGD
ALCRHMCRAIGESFIMKRGDSFLDGTRCMPSGPREDGTLSLCVSGSCRTFGCDGRMDSQQ
VWDRCQVCGGDNSTCSPRKGSFTAGRAREYVTFLTVTPNLTSVYIANHRPLFTHLAVRIG
GRYVVAGKMSISPNTTYPSLLEDGRVEYRVALTEDRLPRLEEIRIWGPLQEDADIQVYRR
YGEEYGNLTRPDITFTYFQPKPRQAWVWAAVRGPCSVSCGAGLRWVNYSCLDQARKELVE
TVQCQGSQQPPAWPEACVLEPCPPYWAVGDFGPCSASCGGGLRERPVRCVEAQGSLLKTL
PPARCRAGAQQPAVALETCNPQPCPARWEVSEPSSCTSAGGAGLALENETCVPGADGLEA
PVTEGPGSVDEKLPAPEPCVGMSCPPGWGHLDATSAGEKAPSPWGSIRTGAQAAHVWTPA
AGSCSVSCGRGLMELRFLCMDSALRVPVQEELCGLASKPGSRREVCQAVPCPARWQYKLA
ACSVSCGRGVVRRILYCARAHGEDDGEEILLDTQCQGLPRPEPQEACSLEPCPPRWKVMS
LGPCSASCGLGTARRSVACVQLDQGQDVEVDEAACAALVRPEASVPCLIADCTYRWHVGT
WMECSVSCGDGIQRRRDTCLGPQAQAPVPADFCQHLPKPVTVRGCWAGPCVGQGTPSLVP
HEEAAAPGRTTATPAGASLEWSQARGLLFSPAPQPRRLLPGPQENSVQSSACGRQHLEPT
GTIDMRGPGQADCAVAIGRPLGEVVTLRVLESSLNCSAGDMLLLWGRLTWRKMCRKLLDM
TFSSKTNTLVVRQRCGRPGGGVLLRYGSQLAPETFYRECDMQLFGPWGEIVSPSLSPATS
NAGGCRLFINVAPHARIAIHALATNMGAGTEGANASYILIRDTHSLRTTAFHGQQVLYWE
SESSQAEMEFSEGFLKAQASLRGQYWTLQSWVPEMQDPQSWKGKEGT
GenBank ID Protein 16117338
UniProtKB/Swiss-Prot ID Q76LX8
UniProtKB/Swiss-Prot Entry Name ATS13_HUMAN
PDB IDs Not Available
GenBank Gene ID AB069698
GeneCard ID ADAMTS13
GenAtlas ID ADAMTS13
HGNC ID HGNC:1366
References
General References
  1. Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A: Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. Genome Res. 2001 Mar;11(3):422-35. [PubMed:11230166 ]
  2. Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R, Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H, Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ, Bentley DR, Beck S, Rogers J, Dunham I: DNA sequence and analysis of human chromosome 9. Nature. 2004 May 27;429(6990):369-74. [PubMed:15164053 ]
  3. Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Genome Res. 2003 Oct;13(10):2265-70. Epub 2003 Sep 15. [PubMed:12975309 ]
  4. Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. J Proteome Res. 2005 Nov-Dec;4(6):2070-80. [PubMed:16335952 ]
  5. Soejima K, Mimura N, Hirashima M, Maeda H, Hamamoto T, Nakagaki T, Nozaki C: A novel human metalloprotease synthesized in the liver and secreted into the blood: possibly, the von Willebrand factor-cleaving protease? J Biochem. 2001 Oct;130(4):475-80. [PubMed:11574066 ]
  6. Zheng X, Chung D, Takayama TK, Majerus EM, Sadler JE, Fujikawa K: Structure of von Willebrand factor-cleaving protease (ADAMTS13), a metalloprotease involved in thrombotic thrombocytopenic purpura. J Biol Chem. 2001 Nov 2;276(44):41059-63. Epub 2001 Sep 13. [PubMed:11557746 ]
  7. Levy GG, Nichols WC, Lian EC, Foroud T, McClintick JN, McGee BM, Yang AY, Siemieniak DR, Stark KR, Gruppo R, Sarode R, Shurin SB, Chandrasekaran V, Stabler SP, Sabio H, Bouhassira EE, Upshaw JD Jr, Ginsburg D, Tsai HM: Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature. 2001 Oct 4;413(6855):488-94. [PubMed:11586351 ]
  8. Cal S, Obaya AJ, Llamazares M, Garabaya C, Quesada V, Lopez-Otin C: Cloning, expression analysis, and structural characterization of seven novel human ADAMTSs, a family of metalloproteinases with disintegrin and thrombospondin-1 domains. Gene. 2002 Jan 23;283(1-2):49-62. [PubMed:11867212 ]
  9. Gerritsen HE, Robles R, Lammle B, Furlan M: Partial amino acid sequence of purified von Willebrand factor-cleaving protease. Blood. 2001 Sep 15;98(6):1654-61. [PubMed:11535494 ]
  10. Fujikawa K, Suzuki H, McMullen B, Chung D: Purification of human von Willebrand factor-cleaving protease and its identification as a new member of the metalloproteinase family. Blood. 2001 Sep 15;98(6):1662-6. [PubMed:11535495 ]
  11. Zheng X, Nishio K, Majerus EM, Sadler JE: Cleavage of von Willebrand factor requires the spacer domain of the metalloprotease ADAMTS13. J Biol Chem. 2003 Aug 8;278(32):30136-41. Epub 2003 Jun 5. [PubMed:12791682 ]
  12. Majerus EM, Zheng X, Tuley EA, Sadler JE: Cleavage of the ADAMTS13 propeptide is not required for protease activity. J Biol Chem. 2003 Nov 21;278(47):46643-8. Epub 2003 Sep 15. [PubMed:12975358 ]
  13. Anderson PJ, Kokame K, Sadler JE: Zinc and calcium ions cooperatively modulate ADAMTS13 activity. J Biol Chem. 2006 Jan 13;281(2):850-7. Epub 2005 Nov 11. [PubMed:16286459 ]
  14. Kokame K, Matsumoto M, Soejima K, Yagi H, Ishizashi H, Funato M, Tamai H, Konno M, Kamide K, Kawano Y, Miyata T, Fujimura Y: Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity. Proc Natl Acad Sci U S A. 2002 Sep 3;99(18):11902-7. Epub 2002 Aug 14. [PubMed:12181489 ]
  15. Antoine G, Zimmermann K, Plaimauer B, Grillowitzer M, Studt JD, Lammle B, Scheiflinger F: ADAMTS13 gene defects in two brothers with constitutional thrombotic thrombocytopenic purpura and normalization of von Willebrand factor-cleaving protease activity by recombinant human ADAMTS13. Br J Haematol. 2003 Mar;120(5):821-4. [PubMed:12614216 ]
  16. Pimanda JE, Maekawa A, Wind T, Paxton J, Chesterman CN, Hogg PJ: Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13. Blood. 2004 Jan 15;103(2):627-9. Epub 2003 Sep 25. [PubMed:14512317 ]
  17. Matsumoto M, Kokame K, Soejima K, Miura M, Hayashi S, Fujii Y, Iwai A, Ito E, Tsuji Y, Takeda-Shitaka M, Iwadate M, Umeyama H, Yagi H, Ishizashi H, Banno F, Nakagaki T, Miyata T, Fujimura Y: Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome. Blood. 2004 Feb 15;103(4):1305-10. Epub 2003 Oct 16. [PubMed:14563640 ]
  18. Uchida T, Wada H, Mizutani M, Iwashita M, Ishihara H, Shibano T, Suzuki M, Matsubara Y, Soejima K, Matsumoto M, Fujimura Y, Ikeda Y, Murata M: Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura. Blood. 2004 Oct 1;104(7):2081-3. Epub 2004 May 4. [PubMed:15126318 ]
  19. Licht C, Stapenhorst L, Simon T, Budde U, Schneppenheim R, Hoppe B: Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS). Kidney Int. 2004 Sep;66(3):955-8. [PubMed:15327386 ]
  20. Liu F, Jin J, Dong NZ, Wang YG, Ruan CG: [Identification of two novel mutations in ADAMTS13 gene in a patient with hereditary thrombotic thrombocytopenic purpura]. Zhonghua Xue Ye Xue Za Zhi. 2005 Sep;26(9):521-4. [PubMed:16468327 ]
  21. Plaimauer B, Fuhrmann J, Mohr G, Wernhart W, Bruno K, Ferrari S, Konetschny C, Antoine G, Rieger M, Scheiflinger F: Modulation of ADAMTS13 secretion and specific activity by a combination of common amino acid polymorphisms and a missense mutation. Blood. 2006 Jan 1;107(1):118-25. Epub 2005 Sep 13. [PubMed:16160007 ]
  22. Peyvandi F, Lavoretano S, Palla R, Valsecchi C, Merati G, De Cristofaro R, Rossi E, Mannuccio Mannucci P: Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity. Hum Mutat. 2006 Apr;27(4):330-6. [PubMed:16453338 ]
  23. Shibagaki Y, Matsumoto M, Kokame K, Ohba S, Miyata T, Fujimura Y, Fujita T: 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. Nephrol Dial Transplant. 2006 May;21(5):1289-92. Epub 2006 Jan 31. [PubMed:16449289 ]