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Coagulation factor XII (Hageman factor)
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| Identifiers | ||
| Symbol(s) | F12; HAF | |
| External IDs | OMIM: 234000 MGI: 1891012 HomoloGene: 425 | |
| EC number | 3.4.21.38 | |
| RNA expression pattern | ||
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| Orthologs | ||
| Human | Mouse | |
| Entrez | 2161 | 58992 |
| Ensembl | ENSG00000131187 | ENSMUSG00000021492 |
| Uniprot | P00748 | n/a |
| Refseq | NM_000505 (mRNA) NP_000496 (protein) |
NM_021489 (mRNA) NP_067464 (protein) |
| Location | Chr 5: 176.76 - 176.77 Mb | Chr 13: 55.43 - 55.44 Mb |
| Pubmed search | [1] | [2] |
Hageman factor is a plasma protein now usually known as factor XII. The Human Genome Organisation (HUGO is an organization involved in the Human Genome Project, a project about mapping the human genome The Mouse Genome Informatics (MGI website is run by The Jackson Laboratory. HomoloGene, a tool of the National Center for Biotechnology Information (NCBI is a system for automated detection of homologs (similarity attributable to descent This article is about the Enzyme Commission codes For the European Commission system for coding chemicals see EC-No. The Entrez Global Query Cross-Database Search System is a powerful Federated search engine or Web portal that allows users to search many discrete Health sciences Ensembl is a joint scientific project between the European Bioinformatics Institute and the Wellcome Trust Sanger Institute, which was launched in 1999 in response to the imminent UniProt is the uni versal prot ein resource a central repository of Protein data created by combining Swiss-Prot, TrEMBL PubMed is a free search engine for accessing the MEDLINE database of citations and abstracts of biomedical research articles It is an enzyme (EC 3.4.21.38) of the serine protease (or serine endopeptidase) class. Enzymes are Biomolecules that catalyze ( ie increase the rates of Chemical reactions Almost all enzymes are Proteins This article is about the Enzyme Commission codes For the European Commission system for coding chemicals see EC-No. Serine proteases or serine endopeptidases (newer name are Proteases ( Enzymes that cut Peptide bonds in Proteins in which one of
Contents |
Function
It is part of the coagulation cascade and activates factor XI and prekallikrein. Coagulation is a complex process by which Blood forms Clots It is an important part of Hemostasis (the cessation of blood loss from a damaged vessel whereby Factor XI or plasma thromboplastin antecedent is one of the Enzymes of the coagulation cascade. Kallikreins (tissue and plasma kallikrein are peptidases (enzymes that cleave peptide bonds in proteins a subgroup of the Serine protease family
Genetics
The gene for factor XII is located on the tip of the long arm of the fifth chromosome (5q33-qter). History See also History of genetics The existence of genes was first suggested by Gregor Mendel (1822-1884 who in the 1860s studied inheritance A chromosome is an organized structure of DNA and Protein that is found in cells.
Role in disease
Hageman factor deficiency is a rare hereditary disorder with a prevalence of about one in a million, although it is a little less common among Asians. A genetic disorder is a condition caused by abnormalities in Genes or Chromosomes While some diseases such as Cancer, are due to genetic abnormalities acquired In Epidemiology, the prevalence of a Disease in a Statistical population is defined as the total number of cases of the disease in the population at a given Deficiency does not cause excessive hemorrhage as the other coagulation factors make up for the it. Bleeding, technically known as hemorrhaging / haemorrhaging (see American and British spelling differences) is the loss of Blood from It may increase the risk of thrombosis, due to inadequate activation of the fibrinolytic pathway. Thrombosis is the formation of a blood Clot ( Thrombus) inside a Blood vessel, obstructing the flow of Blood through the Circulatory Fibrinolysis is the process wherein a Fibrin clot, the product of Coagulation, is broken down The deficiency leads to activated partial thromboplastin times (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. Angioedema ( BE: angiooedema) also known by its Eponym Quincke's edema, is the rapid swelling ( Edema) of the Dermis [1]
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. Year 1955 ( MCMLV) was a Common year starting on Saturday (link displays the 1955 Gregorian calendar) Hageman was then examined by Dr. Oscar Ratnoff who found that Mr. Hageman lacked a previously unidentified clotting factor. [2] 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. Pulmonary embolism (PE is a blockage of the Pulmonary artery or one of its branches usually occurring when a venous Thrombus (blood clot from a vein Since then, case series clinical studies have identified an association of thrombosis and Factor XII deficiency, though the pathophysiology of the relationship is unclear. Thrombosis is the formation of a blood Clot ( Thrombus) inside a Blood vessel, obstructing the flow of Blood through the Circulatory
References
- ^ Cichon S, Martin L, Hennies HC, et al (2006). "Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III". Am. J. Hum. Genet. 79 (6): 1098–104. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 17186468.
- ^ Ratnoff OD, Margolius A (1955). "Hageman trait: an asymptomatic disorder of blood coagulation". Trans. Assoc. Am. Physicians 68: 149-54. PMID 13299324.
Further reading
- Girolami A, Randi ML, Gavasso S, et al. (2005). "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. ". J. Thromb. Thrombolysis 17 (2): 139-43. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 15306750.
- Renné T, Gailani D (2007). "Role of Factor XII in hemostasis and thrombosis: clinical implications. ". Expert review of cardiovascular therapy 5 (4): 733-41. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 17605651.
- Harris RJ, Ling VT, Spellman MW (1992). "O-linked fucose is present in the first epidermal growth factor domain of factor XII but not protein C. ". J. Biol. Chem. 267 (8): 5102-7. PMID 1544894.
- McMullen BA, Fujikawa K, Davie EW (1991). "Location of the disulfide bonds in human plasma prekallikrein: the presence of four novel apple domains in the amino-terminal portion of the molecule. ". Biochemistry 30 (8): 2050-6. PMID 1998666.
- Miyata T, Kawabata S, Iwanaga S, et al. (1989). "Coagulation factor XII (Hageman factor) Washington D. C. : inactive factor XIIa results from Cys-571----Ser substitution. ". Proc. Natl. Acad. Sci. U. S. A. 86 (21): 8319-22. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 2510163.
- Bernardi F, Marchetti G, Patracchini P, et al. (1987). "Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme. ". Blood 69 (5): 1421-4. PMID 2882793.
- Cool DE, MacGillivray RT (1987). "Characterization of the human blood coagulation factor XII gene. Intron/exon gene organization and analysis of the 5'-flanking region. ". J. Biol. Chem. 262 (28): 13662-73. PMID 2888762.
- Que BG, Davie EW (1986). "Characterization of a cDNA coding for human factor XII (Hageman factor). ". Biochemistry 25 (7): 1525-8. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 3011063.
- Royle NJ, Nigli M, Cool D, et al. (1988). "Structural gene encoding human factor XII is located at 5q33-qter. ". Somat. Cell Mol. Genet. 14 (2): 217-21. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 3162339.
- Citarella F, Tripodi M, Fantoni A, et al. (1989). "Assignment of human coagulation factor XII (fXII) to chromosome 5 by cDNA hybridization to DNA from somatic cell hybrids. ". Hum. Genet. 80 (4): 397-8. PMID 3198120.
- Henry ML, Everson B, Ratnoff OD (1988). "Inhibition of the activation of Hageman factor (factor XII) by beta 2-glycoprotein I. ". J. Lab. Clin. Med. 111 (5): 519-23. PMID 3361230.
- Chung DW, Fujikawa K, McMullen BA, Davie EW (1986). "Human plasma prekallikrein, a zymogen to a serine protease that contains four tandem repeats. ". Biochemistry 25 (9): 2410-7. PMID 3521732.
- Tripodi M, Citarella F, Guida S, et al. (1986). "cDNA sequence coding for human coagulation factor XII (Hageman). ". Nucleic Acids Res. 14 (7): 3146. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 3754331.
- Cool DE, Edgell CJ, Louie GV, et al. (1985). "Characterization of human blood coagulation factor XII cDNA. Prediction of the primary structure of factor XII and the tertiary structure of beta-factor XIIa. ". J. Biol. Chem. 260 (25): 13666-76. PMID 3877053.
- McMullen BA, Fujikawa K (1985). "Amino acid sequence of the heavy chain of human alpha-factor XIIa (activated Hageman factor). ". J. Biol. Chem. 260 (9): 5328-41. PMID 3886654.
- de Grouchy J, Turleau C (1975). "Tentative localization of a Hageman (Factor XII) locus on 7q, probably the 7q35 band. ". Humangenetik 24 (3): 197-200. PMID 4140832.
- Fujikawa K, McMullen BA (1983). "Amino acid sequence of human beta-factor XIIa. ". J. Biol. Chem. 258 (18): 10924-33. PMID 6604055.
- Hovinga JK, Schaller J, Stricker H, et al. (1994). "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. ". Blood 84 (4): 1173-81. PMID 8049433.
- Schloesser M, Hofferbert S, Bartz U, et al. (1996). "The novel acceptor splice site mutation 11396(G-->A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients. ". Hum. Mol. Genet. 4 (7): 1235-7. PMID 8528215.
- Hofferbert S, Müller J, Köstering H, et al. (1996). "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. ". Hum. Genet. 97 (6): 838-41. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 8641707.
External links
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