factor V deficiency

WordNet

1. be a contributing factor; "make things factor into a companys profitability"
2. any of the numbers (or symbols) that form a product when multiplied together
3. an independent variable in statistics
4. anything that contributes causally to a result; "a number of factors determined the outcome"
5. consider as relevant when making a decision; "You must factor in the recent developments" (同)factor in, factor out
6. resolve into factors; "a quantum computer can factor the number 15" (同)factor in, factor out
7. an event known to have happened or something known to have existed; "your fears have no basis in fact"; "how much of the story is fact and how much fiction is hard to tell"
8. a concept whose truth can be proved; "scientific hypotheses are not facts"
9. a piece of information about circumstances that exist or events that have occurred; "first you must collect all the facts of the case"
10. a statement or assertion of verified information about something that is the case or has happened; "he supported his argument with an impressive array of facts"
11. the 22nd letter of the Roman alphabet (同)v

PrepTutorEJDIC

1. (…の)『要因』,(…を生み出す)要素《+『in』+『名』(do『ing』)》 / 囲数,約数 / 代理人,《おもに英》仲買人 / =factorize
2. 〈C〉『事実』,実際にある(あった)事 / 〈U〉真相,真実(truth) / 《the~》(法律用語で)犯行
3. 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
4. vanadium の化学記号
5. verb / verso / 《話》very / velocity / volt[s] / volume / vide

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/08/03 14:16:36」(JST)

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[Wiki en表示]

This article is about the blood coagulation protein. For the software company, see Factor 5.

Coagulation factor V (proaccelerin, labile factor)
PDB rendering based on 1czs.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1CZS, 1CZT, 1CZV, 3P6Z, 3P70, 3S9C
Identifiers
Symbols	F5; FVL; PCCF; RPRGL1; THPH2
External IDs	OMIM: 612309 MGI: 88382 HomoloGene: 104 ChEMBL: 3618 GeneCards: F5 Gene
Gene Ontology Molecular function • copper ion binding • protein binding Cellular component • extracellular region • extracellular space • plasma membrane • platelet alpha granule lumen Biological process • platelet degranulation • cell adhesion • blood coagulation • blood circulation • platelet activation Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2153	14067
Ensembl	ENSG00000198734	ENSMUSG00000026579
UniProt	P12259	O88783
RefSeq (mRNA)	NM_000130	NM_007976
RefSeq (protein)	NP_000121	NP_032002
Location (UCSC)	Chr 1: 169.48 – 169.56 Mb	Chr 1: 164.15 – 164.22 Mb
PubMed search	[1]	[2]

Factor V (pronounced factor five) is a protein of the coagulation system, rarely referred to as proaccelerin or labile factor. In contrast to most other coagulation factors, it is not enzymatically active but functions as a cofactor. Deficiency leads to predisposition for hemorrhage, while some mutations (most notably factor V Leiden) predispose for thrombosis.

Genetics

The gene for factor V is located on the first chromosome (1q23). It is genomically related to the family of multicopper oxidases, and is homologous to coagulation factor VIII. The gene spans 70 kb, consists of 25 exons, and the resulting protein has a relative molecular mass of approximately 330kDa.

Physiology

Factor V circulates in plasma as a single-chain molecule with a plasma half-life of about 12 hours. However, half-lives up to 36 hours have been reported.^{[citation needed]}

Factor V is able to bind to activated platelets and is activated by thrombin. On activation, factor V is spliced in two chains (heavy and light chain with molecular masses of 110000 and 73000, respectively) which are noncovalently bound to each other by calcium. The thereby activated factor V (now called FVa) is a cofactor of the prothrombinase complex: The activated factor X (FXa) enzyme requires calcium and activated factor V to convert prothrombin to thrombin on the cell surface membrane.

Factor Va is degraded by activated protein C, one of the principal physiological inhibitors of coagulation. In the presence of thrombomodulin, thrombin acts to decrease clotting by activating Protein C; therefore, the concentration and action of protein C are important determinants in the negative feedback loop through which thrombin limits its own activation.

Role in disease

Various hereditary disorders of factor V are known. Deficiency is associated with a rare mild form of hemophilia (termed parahemophilia or Owren parahemophilia), the incidence of which is about 1:1,000,000. It inherits in an autosomal recessive fashion.

Other mutations of factor V are associated with venous thrombosis. They are the most common hereditary causes for thrombophilia (a tendency to form blood clots). The most common one of these, factor V Leiden, is due to the replacement of an arginine residue with glutamine at amino acid position 506 (R506Q). All prothrombotic factor V mutations (factor V Leiden, factor V Cambridge, factor V Hong Kong) make it resistant to cleavage by activated protein C ("APC resistance"). It therefore remains active and increases the rate of thrombin generation.

Laboratory findings in various platelet and coagulation disorders (V - T)

Condition	Prothrombin time	Partial thromboplastin time	Bleeding time	Platelet count
Vitamin K deficiency or warfarin	Prolonged	Normal or mildly prolonged	Unaffected	Unaffected
Disseminated intravascular coagulation	Prolonged	Prolonged	Prolonged	Decreased
Von Willebrand disease	Unaffected	Prolonged	Prolonged	Unaffected
Hemophilia	Unaffected	Prolonged	Unaffected	Unaffected
Aspirin	Unaffected	Unaffected	Prolonged	Unaffected
Thrombocytopenia	Unaffected	Unaffected	Prolonged	Decreased
Liver failure, early	Prolonged	Unaffected	Unaffected	Unaffected
Liver failure, end-stage	Prolonged	Prolonged	Prolonged	Decreased
Uremia	Unaffected	Unaffected	Prolonged	Unaffected
Congenital afibrinogenemia	Prolonged	Prolonged	Prolonged	Unaffected
Factor V deficiency	Prolonged	Prolonged	Unaffected	Unaffected
Factor X deficiency as seen in amyloid purpura	Prolonged	Prolonged	Unaffected	Unaffected
Glanzmann's thrombasthenia	Unaffected	Unaffected	Prolonged	Unaffected
Bernard-Soulier syndrome	Unaffected	Unaffected	Prolonged	Decreased or unaffected
Factor XII deficiency	Unaffected	Prolonged	Unaffected	Unaffected
C1INH deficiency	Unaffected	Shortened	Unaffected	Unaffected

History

Until the discovery of factor V, coagulation was regarded as a product of four factors: calcium (IV) and thrombokinase (III) together acting on prothrombin (II) to produce fibrinogen (I); this model had been outlined by Paul Morawitz in 1905.

The suggestion that an additional factor might exist was made by Dr Paul Owren (1905–1990), a Norwegian physician, during his investigations into the bleeding tendency of a lady called Mary (1914–2002). She had suffered from nosebleeds and menorrhagia (excessive menstrual blood loss) for most her life, and was found to have a prolonged prothrombin time, suggesting either vitamin K deficiency or chronic liver disease leading to prothrombin deficiency. However, neither were the case, and Owren demonstrated this by correcting the abnormality with plasma from which prothrombin had been removed. Using Mary's serum as index, he found that the "missing" factor, which he labeled V (I-IV having been used in Morawitz' model), had particular characteristics. Most investigations were performed during the Second World War, and while Owren published his results in Norway in 1944, he could not publish them internationally until the war was over. They appeared finally in The Lancet in 1947.

The possibility of an extra coagulation factor was initially resisted on methodological grounds by Drs Armand Quick and Walter Seegers, both world authorities in coagulation. Confirmatory studies from other groups led to their final approval several years later.

Owren initially felt that factor V (labile factor or proaccelerin) activated another factor, which he named VI. VI was the factor that accelerated the conversion from prothrombin to thrombin. It was later discovered that factor V was "converted" (activated) by thrombin itself, and later still that factor VI was simply the activated form of factor V.

The complete amino acid sequence of the protein was published in 1987. In 1994 factor V Leiden, resistant to inactivation by protein C, was described; this abnormality is the most common genetic cause for thrombosis.

Interactions

Factor V has been shown to interact with Protein S.

References

Further reading

• Nicolaes GA, Dahlback B (2002). "Factor V: Factor V and thrombotic disease: description of a janus-faced protein". ATVB 22 (4): 530–538. doi:10.1161/01.ATV.0000012665.51263.B7. PMID 11950687. 
• Segers K, Dahlback B, Nicolaes GA (2007). "Coagulation factor V and thrombophilia: background and mechanisms". Thrombosis Haemost. 98 (3): 530–542. PMID 17849041. 
• Hooper WC, De Staercke C (2006). "The relationship between FV Leiden and pulmonary embolism". Respir. Res. 3 (1): 8. doi:10.1186/rr180. PMC 64819. PMID 11806843. 
• Schrijver I, Houissa-Kastally R, Jones CD, et al. (2002). "Novel factor V C2-domain mutation (R2074H) in two families with factor V deficiency and bleeding". Thromb. Haemost. 87 (2): 294–9. PMID 11858490. 
• Mann KG, Kalafatis M (2003). "Factor V: a combination of Dr Jekyll and Mr Hyde". Blood 101 (1): 20–30. doi:10.1182/blood-2002-01-0290. PMID 12393635. 
• Duga S, Asselta R, Tenchini ML (2005). "Coagulation factor V". Int. J. Biochem. Cell Biol. 36 (8): 1393–9. doi:10.1016/j.biocel.2003.08.002. PMID 15147718. 
• Andreassi MG, Botto N, Maffei S (2006). "Factor V Leiden, prothrombin G20210A substitution and hormone therapy: indications for molecular screening". Clin. Chem. Lab. Med. 44 (5): 514–21. doi:10.1515/CCLM.2006.103. PMID 16681418. 
• Du X (2007). "Signaling and regulation of the platelet glycoprotein Ib-IX-V complex". Curr. Opin. Hematol. 14 (3): 262–9. doi:10.1097/MOH.0b013e3280dce51a. PMID 17414217. 

External links

• The Coagulation Factor V Protein

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. 稀な遺伝性凝固異常 rare inherited coagulation disorders
• 2. 第V因子ライデンおよび活性化プロテインC抵抗性：臨床症状および診断 factor v leiden and activated protein c resistance clinical manifestations and diagnosis
• 3. 後天性の凝固因子阻害物質 acquired inhibitors of coagulation
• 4. 血友病の臨床症状および診断 clinical manifestations and diagnosis of hemophilia
• 5. 出血性素因を有する成人患者へのアプローチ approach to the adult patient with a bleeding diathesis

English Journal

• Platelets and platelet-derived factor Va confer hemostatic competence in complete factor V deficiency.

• Bouchard BA1, Chapin J1, Brummel-Ziedins KE1, Durda P2, Key NS3, Tracy PB1.
• Blood.Blood.2015 Jun 4;125(23):3647-50. doi: 10.1182/blood-2014-07-589580. Epub 2015 Apr 20.
• Whole genome sequencing of an individual completely devoid of plasma- and platelet-derived factor V (FV) identified 167 variants in his F5 gene including previously identified and damaging missense mutations at rs6027 and Leu90Ser. Because the administration of fresh frozen plasma (FFP) prevents gas
• PMID 25896652

• Recurrent hemoperitoneum secondary to haemorrhage from the corpus luteum unmasks factor V deficiency.

• Badyal RK1, Jain K, Mandrelle K, John MJ, Kakkar N, Bose SK, Kumar N, Ahluwalia J.
• Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.Blood Coagul Fibrinolysis.2015 Apr 17. [Epub ahead of print]
• Factor V deficiency is a rare autosomal recessive coagulation disorder. We report a case with inherited factor V deficiency presenting as life-threatening recurrent hemoperitoneum, following bleeding from ruptured corpus haemorrhagicum. Prolonged prothrombin and activated partial thromboplastin time
• PMID 25886835

• Acquired factor V deficiency in myeloproliferative neoplasms: a Mayo Clinic series of 33 patients.

• Ashrani AA1, Tefferi A, Pruthi RK, Pardanani A.
• British journal of haematology.Br J Haematol.2015 Apr 8. doi: 10.1111/bjh.13438. [Epub ahead of print]
• PMID 25854415

Japanese Journal

• 成長ホルモンのけいれん惹起性に関する検討

• 三輪 久美子/永木 茂/大澤 眞木子
• 東京女子医科大学雑誌 83(E1), E194-E204, 2013-01-31
• 成長ホルモン分泌不全性低身長症(GHD)に対する成長ホルモン(GH)治療中にてんかん発作を認めた3症例を経験した。GHのけいれん惹起性を検討するために、自然発症GH欠損ラット(SDR)を用いてGH、インスリン様成長因子I(IGF-I)の急性、慢性投与によるSDRの脳内ソマトスタチン(SRIF)、ニューロペプチドY(NPY)、γ-アミノ酪酸(GABA)濃度、SRIFメッセンジャーRNA(SRIFmR …
• NAID 110009559390

• Impaired dimer assembly and decreased stability of naturally recurring R260C mutant A subunit for coagulation factor ？

• Maeda Shoko,Zhang Wei Guang,Souri Masayoshi [他]
• The journal of biochemistry 152(5), 471-478, 2012-11-00
• NAID 40019507425

Related Links

• Factor V Deficiency: Causes, Symptoms & Diagnosis

Factor V deficiency, also known as Owren's disease or parahemophilia, is a very rare blood clotting disorder that results in slow or prolonged blood clotting after an injury or surgery. Factor V (proaccelerin) is a protein made in the live

• factor V deficiency - definition of factor V deficiency in the ...

factor V deficiency Parahemophilia A condition characterized by mild bleeding, petechial hemorrhage, or menorrhagia that is either congenital–due to the AR defect in the gene for factor V, or acquired–due to IgA or IgG antibodies ...

Related Pictures

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★リンクテーブル★

リンク元	「parahemophilia」「第V因子欠乏症」「第V因子欠損症」
関連記事	「deficiency」「fact」「factor」「Vd」「V」

「parahemophilia」

　　[★]

パラ血友病、血友病類似症

関

factor V deficiency

関

coagulation factors, fac tor V deficiency

「第V因子欠乏症」

　　[★]

英

factor V deficiency

関

第V因子欠損症、血友病類似症

「第V因子欠損症」

　　[★]

英

factor V deficiency

関

第V因子欠乏症

「deficiency」

　　[★]

• n.

• 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
• 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの

関

absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve

　

「fact」

　　[★]

• n.

• 事実、現状、実際、実態

関

actual、actually、in fact、in practice、indeed、practically

　 　 　 　 　

「factor」

　　[★]

• n.

• 因子、要因、要素、ファクター

関

element、elementary、factorial、parameter

　 　 　 　 　 　 　

「Vd」

　　[★]

• 右眼視力 visus dexter
• 分布容量 volume of distribution distribution volume

「V」

　　[★]

• バリン valine
• ビタミン vitamine
• ventilation