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Coagulation Factor VIII (F8)

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FVIII; AHF; HEMA; F8B; F8C; Antihemophilic Globulin; Hemophilia A; Anti-Hemophilic Factor A; FVIII Procoagulant Component; F8 Protein

Coagulation Factor VIII (F8)
CCC B878
HGNC 3546
MGI 88383
PubMed 14660878
RGD 727845
UniProt P00451
Wiki Factor_VIII

Factor VIII (FVIII) is an essential blood clotting factor also known as anti-hemophilic factor (AHF). In humans, Factor VIII is encoded by the F8 gene. Defects in this gene results in hemophilia A, a well known recessive X-linked coagulation disorder.

Factor VIII participates in blood coagulation; it is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids forms a complex that converts factor X to the activated form Xa. The Factor VIII gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPB878Hu01 Recombinant Coagulation Factor VIII (F8) Positive Control; Immunogen; SDS-PAGE; WB.
RPB878Hu02 Recombinant Coagulation Factor VIII (F8) Positive Control; Immunogen; SDS-PAGE; WB.
RPB878Hu03 Recombinant Coagulation Factor VIII (F8) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAB878Hu01 Polyclonal Antibody to Coagulation Factor VIII (F8) WB; IHC; ICC; IP.
MAB878Hu22 Monoclonal Antibody to Coagulation Factor VIII (F8) WB; IHC; ICC; IP.
PAB878Hu02 Polyclonal Antibody to Coagulation Factor VIII (F8) WB; IHC; ICC; IP.
LAB878Hu71 Biotin-Linked Polyclonal Antibody to Coagulation Factor VIII (F8) WB; IHC; ICC.
LAB878Hu81 FITC-Linked Polyclonal Antibody to Coagulation Factor VIII (F8) WB; IHC; ICC; IF.
LAB878Hu83 FITC-Linked Polyclonal Antibody to Coagulation Factor VIII (F8) WB; IHC; ICC; IF.
LAB878Hu73 Biotin-Linked Polyclonal Antibody to Coagulation Factor VIII (F8) WB; IHC; ICC.
PAB878Hu03 Polyclonal Antibody to Coagulation Factor VIII (F8) WB; IHC; ICC; IP.
Assay Kits SEB878Hu ELISA Kit for Coagulation Factor VIII (F8) Enzyme-linked immunosorbent assay for Antigen Detection.
SCB878Hu CLIA Kit for Coagulation Factor VIII (F8) Chemiluminescent immunoassay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPB878Mu01 Recombinant Coagulation Factor VIII (F8) Positive Control; Immunogen; SDS-PAGE; WB.
RPB878Mu02 Recombinant Coagulation Factor VIII (F8) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAB878Mu01 Polyclonal Antibody to Coagulation Factor VIII (F8) WB; IHC; ICC; IP.
LAB878Mu81 FITC-Linked Polyclonal Antibody to Coagulation Factor VIII (F8) WB; IHC; ICC; IF.
LAB878Mu71 Biotin-Linked Polyclonal Antibody to Coagulation Factor VIII (F8) WB; IHC; ICC.
PAB878Mu02 Polyclonal Antibody to Coagulation Factor VIII (F8) WB; IHC
Assay Kits SEB878Mu ELISA Kit for Coagulation Factor VIII (F8) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPB878Ra01 Recombinant Coagulation Factor VIII (F8) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Coagulation Factor VIII (F8) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Coagulation Factor VIII (F8) Polyclonal Antibody Customized Service Offer
Assay Kits SEB878Ra ELISA Kit for Coagulation Factor VIII (F8) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Oryctolagus cuniculus (Rabbit)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPB878Rb01 Recombinant Coagulation Factor VIII (F8) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAB878Rb01 Polyclonal Antibody to Coagulation Factor VIII (F8) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Coagulation Factor VIII (F8) CLIA Kit Customized Service Offer
n/a ELISA Kit for Coagulation Factor VIII (F8) ELISA Kit Customized Service Offer

Organism species: Canis familiaris; Canine (Dog)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPB878Ca01 Recombinant Coagulation Factor VIII (F8) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAB878Ca01 Polyclonal Antibody to Coagulation Factor VIII (F8) WB; IHC; ICC; IP.
MAB878Ca21 Monoclonal Antibody to Coagulation Factor VIII (F8) WB; IHC; ICC; IP.
Assay Kits SEB878Ca ELISA Kit for Coagulation Factor VIII (F8) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Sus scrofa; Porcine (Pig)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPB878Po01 Recombinant Coagulation Factor VIII (F8) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAB878Po01 Polyclonal Antibody to Coagulation Factor VIII (F8) WB; IHC; ICC; IP.
LAB878Po81 FITC-Linked Polyclonal Antibody to Coagulation Factor VIII (F8) WB; IHC; ICC; IF.
LAB878Po71 Biotin-Linked Polyclonal Antibody to Coagulation Factor VIII (F8) WB; IHC; ICC.
Assay Kits n/a CLIA Kit for Coagulation Factor VIII (F8) CLIA Kit Customized Service Offer
n/a ELISA Kit for Coagulation Factor VIII (F8) ELISA Kit Customized Service Offer

Organism species: Bos taurus; Bovine (Cattle)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPB878Bo01 Recombinant Coagulation Factor VIII (F8) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAB878Bo01 Polyclonal Antibody to Coagulation Factor VIII (F8) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Coagulation Factor VIII (F8) CLIA Kit Customized Service Offer
n/a ELISA Kit for Coagulation Factor VIII (F8) ELISA Kit Customized Service Offer

Organism species: Chicken (Gallus)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPB878Ga01 Recombinant Coagulation Factor VIII (F8) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAB878Ga01 Polyclonal Antibody to Coagulation Factor VIII (F8) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Coagulation Factor VIII (F8) CLIA Kit Customized Service Offer
n/a ELISA Kit for Coagulation Factor VIII (F8) ELISA Kit Customized Service Offer
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  25. "A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A."Blood 74:2688-2691(1989) [PubMed] [Europe PMC] [Abstract]
  26. "Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene."Hum. Genet. 81:335-338(1989) [PubMed] [Europe PMC] [Abstract]
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  30. "CRM+ haemophilia A due to a missense mutation (372-->Cys) at the internal heavy chain thrombin cleavage site."Br. J. Haematol. 75:73-77(1990) [PubMed] [Europe PMC] [Abstract]
  31. "Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA."Genomics 6:65-71(1990) [PubMed] [Europe PMC] [Abstract]
  32. "Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene."Genomics 6:293-301(1990) [PubMed] [Europe PMC] [Abstract]
  33. "Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis."Proc. Natl. Acad. Sci. U.S.A. 87:2092-2096(1990) [PubMed] [Europe PMC] [Abstract]
  34. "Identification of mutations in two families with sporadic hemophilia A."Hum. Genet. 87:397-400(1991) [PubMed] [Europe PMC] [Abstract]
  35. "Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene."Proc. Natl. Acad. Sci. U.S.A. 88:7405-7409(1991) [PubMed] [Europe PMC] [Abstract]
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  37. "Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain."Thromb. Res. 61:225-234(1991) [PubMed] [Europe PMC] [Abstract]
  38. "GAA(Glu)272->AAA(Lys) and CGA(Arg)1941->CAA(Gln) in the factor VIII gene in two haemophilia A patients of Czech origin."Br. J. Haematol. 81:458-458(1992) [PubMed] [Europe PMC] [Abstract]
  39. "Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP)."Genomics 13:909-911(1992) [PubMed] [Europe PMC] [Abstract]
  40. "Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection."Hum. Genet. 89:88-94(1992) [PubMed] [Europe PMC] [Abstract]
  41. "A novel mutation (Arg-->Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A."Hum. Mutat. 1:77-78(1992) [PubMed] [Europe PMC] [Abstract]
  42. "Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A."Hum. Mutat. 1:248-257(1992) [PubMed] [Europe PMC] [Abstract]
  43. "Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis."Hum. Mutat. 1:506-508(1992) [PubMed] [Europe PMC] [Abstract]
  44. "Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A."Genomics 15:392-398(1993) [PubMed] [Europe PMC] [Abstract]
  45. "Double strand conformation polymorphism (DSCP) detects two point mutations at codon 280 (AAC-->ATC) and at codon 431 (TAC-->AAC) of the blood coagulation factor VIII gene."Thromb. Haemost. 69:473-475(1993) [PubMed] [Europe PMC] [Abstract]
  46. "Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients."Blood 86:3015-3020(1995) [PubMed] [Europe PMC] [Abstract]
  47. "Screening for mutations in haemophilia A patients by multiplex PCR-SSCP, Southern blotting and RNA analysis: the detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients."Br. J. Haematol. 90:442-449(1995) [PubMed] [Europe PMC] [Abstract]
  48. "Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype."Hum. Genet. 95:531-538(1995) [PubMed] [Europe PMC] [Abstract]
  49. "Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies."Am. J. Hum. Genet. 58:657-670(1996) [PubMed] [Europe PMC] [Abstract]
  50. "Molecular characterization of haemophilia A in southern Chinese."Br. J. Haematol. 93:451-456(1996) [PubMed] [Europe PMC] [Abstract]
  51. "Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods."Br. J. Haematol. 94:400-406(1996) [PubMed] [Europe PMC] [Abstract]
  52. "Mutations in the FVIII gene in seven families with mild haemophilia A."Br. J. Haematol. 96:426-427(1997) [PubMed] [Europe PMC] [Abstract]
  53. "Factor VIII gene analysis in Japanese CRM-positive and CRM-reduced haemophilia A patients by single-strand conformation polymorphism."Br. J. Haematol. 98:901-906(1997) [PubMed] [Europe PMC] [Abstract]
  54. "Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations."Hum. Genet. 100:508-511(1997) [PubMed] [Europe PMC] [Abstract]
  55. "A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins."Br. J. Haematol. 103:1051-1060(1998) [PubMed] [Europe PMC] [Abstract]
  56. "Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcripts."Hum. Mutat. 11:18-22(1998) [PubMed] [Europe PMC] [Abstract]
  57. "Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes."Hum. Mutat. 11:334-334(1998) [PubMed] [Europe PMC] [Abstract]
  58. "Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene."Hum. Mutat. 11:470-479(1998) [PubMed] [Europe PMC] [Abstract]
  59. "Identification of four novel mutations in the factor VIII gene: three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC)."Hum. Mutat. Suppl. 1:S260-S262(1998) [PubMed] [Europe PMC] [Abstract]
  60. "Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping."Hum. Mutat. 12:301-303(1998) [PubMed] [Europe PMC] [Abstract]
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  62. "Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis."Thromb. Haemost. 79:723-726(1998) [PubMed] [Europe PMC] [Abstract]
  63. "Factor VIII inhibitors in mild and moderate-severity haemophilia A."Thromb. Haemost. 79:762-766(1998) [PubMed] [Europe PMC] [Abstract]
  64. "Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954-->Leu substitution in the factor VIII A3 domain."Br. J. Haematol. 105:1123-1126(1999) [PubMed] [Europe PMC] [Abstract]
  65. "Screen of 55 Slovenian haemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G-->A) and discussion of mutation spectrum."Hum. Mutat. 13:413-413(1999) [PubMed] [Europe PMC] [Abstract]
  66. "Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation."Hum. Mutat. 13:504-504(1999) [PubMed] [Europe PMC] [Abstract]
  67. "Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch."Thromb. Haemost. 81:900-905(1999) [PubMed] [Europe PMC] [Abstract]
  68. "A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor."Blood 96:958-965(2000) [PubMed] [Europe PMC] [Abstract]
  69. "Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure."Blood 96:979-987(2000) [PubMed] [Europe PMC] [Abstract]
  70. "Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A."Br. J. Haematol. 108:241-246(2000) [PubMed] [Europe PMC] [Abstract]
  71. "Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family."Br. J. Haematol. 109:523-528(2000) [PubMed] [Europe PMC] [Abstract]
  72. "Experience of a single Italian center in genetic counseling for hemophilia: from linkage analysis to molecular diagnosis."Haematologica 85:525-529(2000) [PubMed] [Europe PMC] [Abstract]
  73. "Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factor VIII (Recombinate)."Thromb. Haemost. 83:844-848(2000) [PubMed] [Europe PMC] [Abstract]
  74. "Mutations of the factor VIII gene in Thai hemophilia A patients."Hum. Mutat. 15:117-118(2000) [PubMed] [Europe PMC] [Abstract]
  75. "Somatic mosaicism in hemophilia A: a fairly common event."Am. J. Hum. Genet. 69:75-87(2001) [PubMed] [Europe PMC] [Abstract]
  76. "Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data."Br. J. Haematol. 112:1062-1070(2001) [PubMed] [Europe PMC] [Abstract]
  77. "Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A."Haemophilia 7:381-391(2001) [PubMed] [Europe PMC] [Abstract]
  78. "Mild haemophilia A discovered in a previously multi-operated 73-year-old man: characterization of a new mutation."Haemophilia 7:419-421(2001) [PubMed] [Europe PMC] [Abstract]
  79. "Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations."Haemophilia 7:475-481(2001) [PubMed] [Europe PMC] [Abstract]
  80. "Seven novel and four recurrent point mutations in the factor VIII (F8C) gene."Hum. Mutat. 18:546-546(2001) [PubMed] [Europe PMC] [Abstract]
  81. "Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations."Thromb. Haemost. 85:580-583(2001) [PubMed] [Europe PMC] [Abstract]
  82. ErratumThromb. Haemost. 86:727-727(2001)
  83. "Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A."Blood 100:3034-3036(2002) [PubMed] [Europe PMC] [Abstract]
  84. "Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A."Br. J. Haematol. 119:390-392(2002) [PubMed] [Europe PMC] [Abstract]
  85. "Three novel point mutations causing haemophilia A."Haemophilia 8:715-718(2002) [PubMed] [Europe PMC] [Abstract]
  86. "The identification and classification of 41 novel mutations in the factor VIII gene (F8C)."Hum. Mutat. 19:274-278(2002) [PubMed] [Europe PMC] [Abstract]
  87. "Identification of seven novel mutations of F8C by DHPLC."Hum. Mutat. 20:231-232(2002) [PubMed] [Europe PMC] [Abstract]
  88. "High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation."Hum. Mutat. 20:267-274(2002) [PubMed] [Europe PMC] [Abstract]
  89. "Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses."Thromb. Haemost. 87:273-276(2002) [PubMed] [Europe PMC] [Abstract]
  90. "11 hemophilia A patients without mutations in the factor VIII encoding gene."Thromb. Haemost. 88:357-360(2002) [PubMed] [Europe PMC] [Abstract]
  91. "Analysis of 18 novel mutations in the factor VIII gene."Br. J. Haematol. 122:810-817(2003) [PubMed] [Europe PMC] [Abstract]
  92. "Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid substitutions."J. Thromb. Haemost. 1:773-781(2003) [PubMed] [Europe PMC] [Abstract]
  93. "Genotype and phenotype of haemophilia A in Thai patients."Haemophilia 9:179-186(2003) [PubMed] [Europe PMC] [Abstract]
  94. "Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations."Am. J. Hematol. 78:117-122(2005) [PubMed] [Europe PMC] [Abstract]
  95. "Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype."Haemophilia 11:133-141(2005) [PubMed] [Europe PMC] [Abstract]
  96. "Female haemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII."J. Thromb. Haemost. 4:1969-1974(2006) [PubMed] [Europe PMC] [Abstract]
  97. "Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites."Blood 111:3468-3478(2008) [PubMed] [Europe PMC] [Abstract]
  98. "Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations."Haemophilia 17:913-918(2011) [PubMed] [Europe PMC] [Abstract]
  99. "Factor VIII Antigen, Activity, and Mutations in Hemophilia A."Clin. Appl. Thromb. Hemost. 0:0-0(2014) [PubMed] [Europe PMC] [Abstract]