Factor XII
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2008-07-08T00:34:13Z
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'''Hageman factor''' is a plasma protein now usually known as '''factor XII'''. It is an [[enzyme]] ({{EC number|3.4.21.38}}) of the [[serine protease]] (or serine endopeptidase) class.
==Function==
It is part of the [[coagulation]] cascade and activates [[factor XI]] and [[prekallikrein]].
[[Image:Coagulation full.svg|thumb|center|400px|The coagulation cascade.]]
==Genetics==
The [[gene]] for factor XII is located on the tip of the long arm of the fifth [[chromosome]] (5q33-qter).
==Role in disease==
Hageman factor deficiency is a rare [[genetic disorder|hereditary disorder]] with a [[prevalence]] of about one in a million, although it is a little less common among Asians. Deficiency does not cause excessive [[hemorrhage]] as the other coagulation factors make up for the it. It may increase the risk of [[thrombosis]], due to inadequate activation of the [[fibrinolysis|fibrinolytic pathway]]. The deficiency leads to activated [[partial thromboplastin time]]s (PTT) greater than 200 seconds.
Two missense mutations have been identified in F12, the gene encoding human coagulation factor XII. These mutations are thought to be the cause of a very rare form of [[hereditary angioedema]] (HAE), called HAE type III.<ref>{{cite journal |author=Cichon S, Martin L, Hennies HC, ''et al'' |title=Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III |journal=Am. J. Hum. Genet. |volume=79 |issue=6 |pages=1098–104 |year=2006 |pmid=17186468 |doi=10.1086/509899}}</ref>
==History==
Hageman factor was first discovered in [[1955]] when a routine preoperative blood sample of the 37-year-old railroad brakeman John Hageman was found to have prolonged clotting time in test tubes, even though he had no hemorrhagic symptoms. Hageman was then examined by Dr. Oscar Ratnoff who found that Mr. Hageman lacked a previously unidentified clotting factor.<ref>{{cite journal |author=Ratnoff OD, Margolius A |title=Hageman trait: an asymptomatic disorder of blood coagulation |journal=Trans. Assoc. Am. Physicians |volume=68 |issue= |pages=149–54 |year=1955 |pmid=13299324 |doi=}}</ref> Dr. Ratnoff later found that the Hageman factor deficiency is [[autosomal recessive]] disorder, when examining several related people which had the deficiency. Paradoxically, [[pulmonary embolism]] contributed to Hageman's death after an occupational accident. Since then, case series clinical studies have identified an association of [[thrombosis]] and Factor XII deficiency, though the pathophysiology of the relationship is unclear. Hepatocytes express blood coagulation factor XII<ref>http://www.ncbi.nlm.nih.gov/pubmed/2324612</ref>.
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Girolami A, Randi ML, Gavasso S, ''et al.'' |title=The occasional venous thromboses seen in patients with severe (homozygous) FXII deficiency are probably due to associated risk factors: a study of prevalence in 21 patients and review of the literature |journal=J. Thromb. Thrombolysis |volume=17 |issue= 2 |pages= 139–43 |year= 2005 |pmid= 15306750 |doi= 10.1023/B:THRO.0000037670.42776.cd }}
*{{cite journal | author=Renné T, Gailani D |title=Role of Factor XII in hemostasis and thrombosis: clinical implications |journal=Expert review of cardiovascular therapy |volume=5 |issue= 4 |pages= 733–41 |year= 2007 |pmid= 17605651 |doi= 10.1586/14779072.5.4.733 }}
*{{cite journal | author=Harris RJ, Ling VT, Spellman MW |title=O-linked fucose is present in the first epidermal growth factor domain of factor XII but not protein C |journal=J. Biol. Chem. |volume=267 |issue= 8 |pages= 5102–7 |year= 1992 |pmid= 1544894 |doi= }}
*{{cite journal | author=McMullen BA, Fujikawa K, Davie EW |title=Location of the disulfide bonds in human plasma prekallikrein: the presence of four novel apple domains in the amino-terminal portion of the molecule |journal=Biochemistry |volume=30 |issue= 8 |pages= 2050–6 |year= 1991 |pmid= 1998666 |doi= }}
*{{cite journal | author=Miyata T, Kawabata S, Iwanaga S, ''et al.'' |title=Coagulation factor XII (Hageman factor) Washington D.C.: inactive factor XIIa results from Cys-571----Ser substitution |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=86 |issue= 21 |pages= 8319–22 |year= 1989 |pmid= 2510163| doi=10.1073/pnas.86.21.8319}}
*{{cite journal | author=Bernardi F, Marchetti G, Patracchini P, ''et al.'' |title=Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme |journal=Blood |volume=69 |issue= 5 |pages= 1421–4 |year= 1987 |pmid= 2882793 |doi= }}
*{{cite journal | author=Cool DE, MacGillivray RT |title=Characterization of the human blood coagulation factor XII gene. Intron/exon gene organization and analysis of the 5'-flanking region |journal=J. Biol. Chem. |volume=262 |issue= 28 |pages= 13662–73 |year= 1987 |pmid= 2888762 |doi= }}
*{{cite journal | author=Que BG, Davie EW |title=Characterization of a cDNA coding for human factor XII (Hageman factor) |journal=Biochemistry |volume=25 |issue= 7 |pages= 1525–8 |year= 1986 |pmid= 3011063| doi=10.1021/bi00355a009}}
*{{cite journal | author=Royle NJ, Nigli M, Cool D, ''et al.'' |title=Structural gene encoding human factor XII is located at 5q33-qter |journal=Somat. Cell Mol. Genet. |volume=14 |issue= 2 |pages= 217–21 |year= 1988 |pmid= 3162339| doi=10.1007/BF01534407}}
*{{cite journal | author=Citarella F, Tripodi M, Fantoni A, ''et al.'' |title=Assignment of human coagulation factor XII (fXII) to chromosome 5 by cDNA hybridization to DNA from somatic cell hybrids |journal=Hum. Genet. |volume=80 |issue= 4 |pages= 397–8 |year= 1989 |pmid= 3198120 |doi= }}
*{{cite journal | author=Henry ML, Everson B, Ratnoff OD |title=Inhibition of the activation of Hageman factor (factor XII) by beta 2-glycoprotein I |journal=J. Lab. Clin. Med. |volume=111 |issue= 5 |pages= 519–23 |year= 1988 |pmid= 3361230 |doi= }}
*{{cite journal | author=Chung DW, Fujikawa K, McMullen BA, Davie EW |title=Human plasma prekallikrein, a zymogen to a serine protease that contains four tandem repeats |journal=Biochemistry |volume=25 |issue= 9 |pages= 2410–7 |year= 1986 |pmid= 3521732 |doi= }}
*{{cite journal | author=Tripodi M, Citarella F, Guida S, ''et al.'' |title=cDNA sequence coding for human coagulation factor XII (Hageman) |journal=Nucleic Acids Res. |volume=14 |issue= 7 |pages= 3146 |year= 1986 |pmid= 3754331| doi=10.1093/nar/14.7.3146}}
*{{cite journal | author=Cool DE, Edgell CJ, Louie GV, ''et al.'' |title=Characterization of human blood coagulation factor XII cDNA. Prediction of the primary structure of factor XII and the tertiary structure of beta-factor XIIa |journal=J. Biol. Chem. |volume=260 |issue= 25 |pages= 13666–76 |year= 1985 |pmid= 3877053 |doi= }}
*{{cite journal | author=McMullen BA, Fujikawa K |title=Amino acid sequence of the heavy chain of human alpha-factor XIIa (activated Hageman factor) |journal=J. Biol. Chem. |volume=260 |issue= 9 |pages= 5328–41 |year= 1985 |pmid= 3886654 |doi= }}
*{{cite journal | author=de Grouchy J, Turleau C |title=Tentative localization of a Hageman (Factor XII) locus on 7q, probably the 7q35 band |journal=Humangenetik |volume=24 |issue= 3 |pages= 197–200 |year= 1975 |pmid= 4140832 |doi= }}
*{{cite journal | author=Fujikawa K, McMullen BA |title=Amino acid sequence of human beta-factor XIIa |journal=J. Biol. Chem. |volume=258 |issue= 18 |pages= 10924–33 |year= 1983 |pmid= 6604055 |doi= }}
*{{cite journal | author=Hovinga JK, Schaller J, Stricker H, ''et al.'' |title=Coagulation factor XII Locarno: the functional defect is caused by the amino acid substitution Arg 353-->Pro leading to loss of a kallikrein cleavage site |journal=Blood |volume=84 |issue= 4 |pages= 1173–81 |year= 1994 |pmid= 8049433 |doi= }}
*{{cite journal | author=Schloesser M, Hofferbert S, Bartz U, ''et al.'' |title=The novel acceptor splice site mutation 11396(G-->A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients |journal=Hum. Mol. Genet. |volume=4 |issue= 7 |pages= 1235–7 |year= 1996 |pmid= 8528215 |doi= }}
*{{cite journal | author=Hofferbert S, Müller J, Köstering H, ''et al.'' |title=A novel 5'-upstream mutation in the factor XII gene is associated with a TaqI restriction site in an Alu repeat in factor XII-deficient patients |journal=Hum. Genet. |volume=97 |issue= 6 |pages= 838–41 |year= 1996 |pmid= 8641707| doi=10.1007/BF02346200}}
}}
{{refend}}
==External links==
* {{MeshName|Factor+XII}}
{{Coagulation}}
{{Serine endopeptidases}}
[[Category:Coagulation system]]
[[Category:EC 3.4.21]]
[[de:Hageman-Faktor]]
[[es:Factor XII]]
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