Faktor VIII
(Preusmjereno sa stranice DXS1253E)
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Faktor VIII (FVIII) je esencijalni protein zgrušavanja krvi. On je takođe poznat kao antihemofilički faktor (AHF). Kod ljudi, faktor VIII je Kodiran F8 genom.[1][2] Defekti tog gena dovode do hemophilije A, recesivnog X-vezanog koagulacionog poremećaja.[3]
| Koagulacioni faktor VIII, prokoagulantna komponenta | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
 PDB prikaz paziran na 2R7E. | |||||||||||
| Dostupne strukture | |||||||||||
| 1CFG, 1D7P, 1IQD, 2R7E, 3CDZ, 3HNB, 3HNY, 3HOB, 3J2Q, 3J2S, 4BDV | |||||||||||
| Identifikatori | |||||||||||
| Simboli | F8; AHF; DXS1253E; F8B; F8C; FVIII; HEMA | ||||||||||
| Vanjski ID | OMIM: 300841 MGI: 88383 HomoloGene: 49153 GeneCards: F8 Gene | ||||||||||
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| Pregled RNK izražavanja | |||||||||||
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| podaci | |||||||||||
| Ortolozi | |||||||||||
| Vrsta | Čovek | Miš | |||||||||
| Entrez | 2157 | 14069 | |||||||||
| Ensembl | ENSG00000185010 | ENSMUSG00000031196 | |||||||||
| UniProt | P00451 | Q06194 | |||||||||
| RefSeq (mRNA) | NM_000132 | NM_001161373 | |||||||||
| RefSeq (protein) | NP_000123 | NP_001154845 | |||||||||
| Lokacija (UCSC) | Chr HG1497_PATCH: 154.04 - 154.23 Mb | Chr X: 75.17 - 75.38 Mb | |||||||||
| PubMed pretraga | [1] | [2] | |||||||||
Reference
uredi- ↑ Toole JJ, Knopf JL, Wozney JM, Sultzman LA, Buecker JL, Pittman DD, Kaufman RJ, Brown E, Shoemaker C, Orr EC (1984). „Molecular cloning of a cDNA encoding human antihaemophilic factor”. Nature 312 (5992): 342–7. DOI:10.1038/312342a0. PMID 6438528.
- ↑ Truett MA, Blacher R, Burke RL, Caput D, Chu C, Dina D, Hartog K, Kuo CH, Masiarz FR, Merryweather JP (October 1985). „Characterization of the polypeptide composition of human factor VIII:C and the nucleotide sequence and expression of the human kidney cDNA”. DNA 4 (5): 333–49. DOI:10.1089/dna.1985.4.333. PMID 3935400.
- ↑ Antonarakis SE (July 1995). „Molecular genetics of coagulation factor VIII gene and hemophilia A”. Thromb. Haemost. 74 (1): 322–8. PMID 8578479.
Literatura
uredi- Gitschier J (1991). „The molecular basis of hemophilia A”. Ann. N. Y. Acad. Sci. 614 (1 Process in Va): 89–96. DOI:10.1111/j.1749-6632.1991.tb43694.x. PMID 1902642.
- White GC, Shoemaker CB (1989). „Factor VIII gene and hemophilia A”. Blood 73 (1): 1–12. PMID 2491949.
- Antonarakis SE, Kazazian HH, Tuddenham EG (1995). „Molecular etiology of factor VIII deficiency in hemophilia A”. Hum. Mutat. 5 (1): 1–22. DOI:10.1002/humu.1380050102. PMID 7728145.
- Lenting PJ, van Mourik JA, Mertens K (1999). „The life cycle of coagulation factor VIII in view of its structure and function”. Blood 92 (11): 3983–96. PMID 9834200.
- Saenko EL, Ananyeva N, Kouiavskaia D, et al. (2003). „Molecular defects in coagulation Factor VIII and their impact on Factor VIII function”. Vox Sang. 83 (2): 89–96. DOI:10.1046/j.1423-0410.2002.00183.x. PMID 12201837.
- Lollar P (2003). „Molecular characterization of the immune response to factor VIII”. Vox Sang.. 83 Suppl 1: 403–8. PMID 12617176.
- Fay PJ (2004). „Activation of factor VIII and mechanisms of cofactor action”. Blood Rev. 18 (1): 1–15. DOI:10.1016/S0268-960X(03)00025-0. PMID 14684146.
- Lavigne-Lissalde G, Schved JF, Granier C, Villard S (2005). „Anti-factor VIII antibodies: a 2005 update”. Thromb. Haemost. 94 (4): 760–9. DOI:10.1160/TH05-02-0118. PMID 16270627.
- Fang H, Wang L, Wang H (2007). „The protein structure and effect of factor VIII”. Thromb. Res. 119 (1): 1–13. DOI:10.1016/j.thromres.2005.12.015. PMID 16487577.
