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Defective gamma-carboxylation of F9

Summary

Organism

Homo sapiens (human)

Reactome

R-HSA-9673240

PubChem

R-HSA-9673240

Description

Naturally occurring hemophilia B (HB)-associated point mutations in the FIX propeptide sequence reduce affinity to gamma-glutamyl carboxylase (GGCX) resulting in reduced γ-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).

Click on a node on the pathway to see its details. Glycoproteins are marked with a glycoprotein icon in their name.

SPV: a JavaScript Signaling Pathway Visualizer, Bioinformatics, 2018

Displaying **all 2** entries
UniProt ID	Protein Name	Gene Symbol	Pathway Viewer
P00740	Coagulation factor IX	F9	view
P38435	Vitamin K-dependent gamma-carboxylase	GC GGCX	view

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