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Details on Person A deficiency or dysfunction of factor IX (FIX) caused by mut...

Class:IdSummation:9673226
_displayNameA deficiency or dysfunction of factor IX (FIX) caused by mut...
_timestamp2020-01-13 20:25:19
created[InstanceEdit:9673229] Shamovsky, Veronica, 2020-01-07
literatureReference[LiteratureReference:9670906] Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity
[LiteratureReference:9672822] Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations
[LiteratureReference:9670806] The carboxyl-terminal region of factor IX is essential for its secretion
[LiteratureReference:9672420] Apparent synonymous mutation F9 c.87A>G causes secretion failure by in-frame mutation with aberrant splicing
[LiteratureReference:9672428] Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function
[LiteratureReference:9670691] Two novel mutations in EGF-like domains of human factor IX dramatically impair intracellular processing and secretion
modified[InstanceEdit:9674512] Shamovsky, Veronica, 2020-01-13
textA 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.

(summation)[Pathway:9673218] Defective F9 secretion [Homo sapiens]
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