Non-secretable F8 variant [endoplasmic reticulum lumen]

Stable Identifier
Set [CandidateSet]
Homo sapiens
Non-secretable FVIII variant
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
28327546 Missense mutations near the N-glycosylation site of the A2 domain lead to various intracellular trafficking defects in coagulation factor VIII

Zhu, M, Zheng, C, Zhang, B, Yang, R, Zhu, X, Misra, S, Wei, W

Sci Rep 2017
24108539 Effect of F8 B domain gene variants on synthesis, secretion, activity and stability of factor VIII protein

Pahl, S, Oldenburg, J, Driesen, J, Pavlova, A

Thromb. Haemost. 2014
24037092 Endogenous factor VIII synthesis from the intron 22-inverted F8 locus may modulate the immunogenicity of replacement therapy for hemophilia A

Sauna, ZE, Przytycka, TM, Yanover, C, Cole, SA, Pierce, GF, Howard, TE, Viel, KR, Lillicrap, D, Rydz, N, Kimchi-Sarfaty, C, Miller-Jenkins, LM, Garfield, S, Pandey, GS, Curran, JE, Moses, EK, Simhadri, V

Nat. Med. 2013
30690819 Splicing analysis of 26 F8 nucleotide variations using a minigene assay

Bozon, D, Nougier, C, Jourdy, Y, Fretigny, M, Vinciguerra, C, Negrier, C

Haemophilia 2019
29170251 Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity

Peyvandi, F, Garagiola, I, McVey, JH, Pinotti, M, Branchini, A, Donadon, I, Bernardi, F, Mortarino, M

Haematologica 2018
10691849 Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A

Peters, M, Timmermans, SM, De Laaf, RT, van Mourik, JA, Voorberg, J, Roelse, JC

Br. J. Haematol. 2000
29444815 Molecular mechanisms of missense mutations that generate ectopic N-glycosylation sites in coagulation factor VIII

Zhu, M, Gilmore, R, Zhang, B, Zhu, X, Yang, R, Misra, S, Cannon, MV, Wei, W

Biochem. J. 2018
11380445 Stable recombinant expression and characterization of the two haemophilic factor VIII variants C329S (CRM(-)) and G1948D (CRM(r))

Tuddenham, EG, David, D, McVey, JH, Saenko, EL, Kemball-Cook, G, Johnson, DJ, Santos, IM

Br. J. Haematol. 2001
21217077 Factor VIII A3 domain substitution N1922S results in hemophilia A due to domain-specific misfolding and hyposecretion of functional protein

Brown, HC, Summers, RJ, Lollar, P, Healey, JF, Doering, CB, Parker, ET, Kempton, CL, Meeks, SL

Blood 2011
2107542 Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis

Kogan, S, Gitschier, J

Proc. Natl. Acad. Sci. U.S.A. 1990
8810344 Factor VIII C2 domain missense mutations exhibit defective trafficking of biologically functional proteins

Kaufman, RJ, Pipe, SW

J. Biol. Chem. 1996
25406352 The intron-22-inverted F8 locus permits factor VIII synthesis: explanation for low inhibitor risk and a role for pharmacogenomics

Sauna, ZE, Yanover, C, Lozier, JN, Nichols, T, Howard, TE, Kasper, CK

Blood 2015
8836140 Intracellular retention of a factor VIII protein with an Arg2307-->Gln mutation as a cause of haemophilia A

De Laaf, RT, van Mourik, JA, Voorberg, J, Koster, PM

Biochem. J. 1996
15810915 Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype

Dolan, G, Gordon, B, Hill, M, Deam, S

Haemophilia 2005
Name Identifier Synonyms
factor VIII deficiency DOID:12134 Congenital factor VIII disorder, Subhemophilia, Hemophilia A
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