Faktor VIII
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 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
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| 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
уреди- ^ 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. PMID 6438528. doi:10.1038/312342a0.
- ^ Truett MA, Blacher R, Burke RL, Caput D, Chu C, Dina D, Hartog K, Kuo CH, Masiarz FR, Merryweather JP (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. PMID 3935400. doi:10.1089/dna.1985.4.333.
- ^ Antonarakis SE (1995). „Molecular genetics of coagulation factor VIII gene and hemophilia A”. Thromb. Haemost. 74 (1): 322—8. PMID 8578479.
Literatura
уреди- Gitschier J (1991). „The molecular basis of hemophilia A”. Ann. N. Y. Acad. Sci. 614 (1 Process in Va): 89—96. PMID 1902642. doi:10.1111/j.1749-6632.1991.tb43694.x.
- 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. PMID 7728145. doi:10.1002/humu.1380050102.
- 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. PMID 12201837. doi:10.1046/j.1423-0410.2002.00183.x.
- 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. PMID 14684146. doi:10.1016/S0268-960X(03)00025-0.
- Lavigne-Lissalde G, Schved JF, Granier C, Villard S (2005). „Anti-factor VIII antibodies: a 2005 update”. Thromb. Haemost. 94 (4): 760—9. PMID 16270627. doi:10.1160/TH05-02-0118.
- Fang H, Wang L, Wang H (2007). „The protein structure and effect of factor VIII”. Thromb. Res. 119 (1): 1—13. PMID 16487577. doi:10.1016/j.thromres.2005.12.015.
Spoljašnje veze
уреди
- Factor VIII
- GeneReviews/NCBI/NIH/UW entry on Hemophilia A
- The Coagulation Factor VIII Protein
- Factor+VIII на US National Library of Medicine Medical Subject Headings (MeSH)