Defective F9 secretion

Stable Identifier
Homo sapiens
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A deficiency or dysfunction of factor IX (FIX) caused by mutations in the F9 gene is associated with a blood clotting disorder hemophilia B (HB). The FIX protein level may be decreased in the circulation by F9 mutations affecting FIX protein synthesis, stability, or secretion (Kurachi S et al. 1997; Enjolras N et al. 2004; Branchini A et al. 2013, 2017; Tajnik M et al. 2016; Odaira K et al. 2019).

The Reactome event describes intracellular accumulation and/or decreased secretion of FIX due to different HB-related genetic alterations spread throughout the F9 gene.

Literature References
PubMed ID Title Journal Year
27227676 Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function

Barbon, E, Tajnik, M, Pinotti, M, Pagani, F, Balestra, D, Bussani, E, Rogalska, ME

PLoS Genet. 2016
23994528 Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity

Biondo, F, Campioni, M, Bicocchi, MP, Mazzucconi, MG, Pinotti, M, Branchini, A, Bernardi, F, Mari, R

FEBS Lett. 2013
9100030 The carboxyl-terminal region of factor IX is essential for its secretion

Kurachi, K, Pantazatos, DP, Kurachi, S

Biochemistry 1997
15219198 Two novel mutations in EGF-like domains of human factor IX dramatically impair intracellular processing and secretion

Rodriguez, MH, Vinciguerra, C, Enjolras, N, Rea, M, Negrier, C, Attali, O, Plantier, JL

J. Thromb. Haemost. 2004
Name Identifier Synonyms
hemophilia B DOID:12259 factor IX deficiency, Congenital factor IX deficiency, deficiency, functional factor IX, Congenital factor IX disorder
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