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Encyclopedia > Factor XII
coagulation factor XII
Identifiers
Symbol(s) F12
Entrez 2161
OMIM 234000
RefSeq NM_000505
UniProt P00748
Other data
EC number 3.4.21.38
Locus Chr. 5 q33-qter

Hageman factor is a plasma protein now usually known as factor XII. It is part of the coagulation cascade and activates factor XI and prekallikrein. It is an enzyme (EC 3.4.21.38) of the serine protease (or serine endopeptidase) class. Hugo is a masculine name. ... The Entrez logo The Entrez Global Query Cross-Database Search System allows access to databases at the National Center for Biotechnology Information (NCBI) website. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The National Center for Biotechnology Information (NCBI) is part of the US National Library of Medicine (NLM), which is a branch of the US National Institutes of Health. ... Swiss-Prot is a curated biological database of protein sequences created in 1986 by Amos Bairoch during his PhD and developed by the Swiss Institute of Bioinformatics and the European Bioinformatics Institute. ... The Enzyme Commission number (EC number) is a numerical classification scheme for enzymes, based on the chemical reactions they catalyze. ... Short and long arms Chromosome. ... Chromosome 5 is one of the 23 pairs of chromosomes in humans. ... The coagulation of blood is a complex process during which blood forms solid clots. ... Factor XI or plasma thromboplastin antecent is one of the enzymes ( EC 3. ... Please wikify (format) this article or section as suggested in the Guide to layout and the Manual of Style. ... Ribbon diagram of the enzyme TIM, surrounded by the space-filling model of the protein. ... The Enzyme Commission number (EC number) is a numerical classification scheme for enzymes, based on the chemical reactions they catalyze. ... Crystal structure of Trypsin, a typical serine protease. ...

Contents

Genetics

The gene for factor XII is located on the tip of the long arm of the fifth chromosome (5q33-qter). For other meanings of this term, see gene (disambiguation). ... Figure 1: A representation of a condensed eukaryotic chromosome, as seen during cell division. ...


Deficiency

Hageman factor deficiency is a rare hereditary disorder with a prevalence of about one in a million, although it is a little more 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 fibrinolytic pathway. The deficiency leads to activated partial thromboplastin times (PTT) greater than 200 seconds. A genetic disorder, or genetic disease, is a condition caused by abnormal expression of one or more genes resulting in a clinical phenotype. ... In epidemiology, the prevalence of a disease in a statistical population is defined as the ratio of the number of cases of a disease present in a statistical population at a specified time and the number of individuals in the population at that specified time. ... To meet Wikipedias quality standards, this article or section may require cleanup. ... Thrombosis is the formation of a clot or thrombus inside a blood vessel, obstructing the flow of blood through the circulatory system. ... Fibrinolysis is the process where a fibrin clot, the product of coagulation, is broken down. ...


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. 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. 1955 (MCMLV) was a common year starting on Saturday of the Gregorian calendar. ... In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ...


External link


  Results from FactBites:
 
Factor XII Activity (759 words)
Factor XII is an 80 kilodalton single-chain proenzyme that is synthesized in the liver.
Factor XII deficiency is usually inherited in an autosomal recessive manner and heterozygous deficiency is relatively common, affecting somewhere between 1.5% and 3.0% of the population.
Factor XII levels are moderately diminished in heterozygous individuals with levels ranging between 20% and 60% of normal.
Haematologic Technologies - Human Factor XII (564 words)
Factor XII (XII) (Hageman Factor) is a single chain (Mr=78,000) glycoprotein zymogen that circulates in plasma at a concentration of 40 mg/ml (1-5).
Reciprical activation of XII to the active serine protease factor XIIa (XIIa) by kallikrein is central to initiation of the intrinsic coagulation pathway.
The ratio of C1-INH to XII has been implicated in the "cold activation" of factor VII and the conversion of prorenin to renin on storage of plasma (20,21).
  More results at FactBites »

 
 

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