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created	[InstanceEdit:9673229] Shamovsky, Veronica, 2020-01-07
dbId	9673220
displayName	Naturally occurring hemophilia B (HB)-associated point mutat...
literatureReference	[LiteratureReference:9673185] Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position -4 [LiteratureReference:9673198] Effect of propeptide mutations on post-translational processing of factor IX. Evidence that beta-hydroxylation and gamma-carboxylation are independent events [LiteratureReference:159725] Factor IX San Dimas. Substitution of glutamine for Arg-4 in the propeptide leads to incomplete gamma-carboxylation and altered phospholipid binding properties. [LiteratureReference:9673183] The Arg-4 mutant factor IX Strasbourg 2 shows a delayed activation by factor XIa [LiteratureReference:9673214] Molecular basis of hemophilia B: a defective enzyme due to an unprocessed propeptide is caused by a point mutation in the factor IX precursor
schemaClass	Summation
text	Naturally occurring hemophilia B (HB)-associated point mutations in the FIX propeptide sequence reduce affinity to gamma-glutamyl carboxylase (GGCX) resulting in reduced ?-carboxylation and aberrant propeptide processing (Bentley AK et al. 1986; Rabiet MJ et al. 1987; Diuguid DL et al. 1986; Ware J et al. 1989; de la Salle C et al. 1993). Unprocessed FIX variants such as F9 N43Q/L or F9 N46S, circulate with the attached propeptide and show delayed FIX activation (Bentley AK et al. 1986; Diuguid DL et al. 1986; Ware J et al. 1989; de la Salle C et al. 1993).

Referrals

(summation)

[Pathway:R-HSA-9673240] Defective gamma-carboxylation of F9

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