Reactome | 3OHD110-F9(29-461) variant [endoplasmic reticulum lumen]

3OHD110-F9(29-461) variant [endoplasmic reticulum lumen]

Stable Identifier

R-HSA-9673245

Type

Set [DefinedSet]

Species

Homo sapiens

Compartment

endoplasmic reticulum lumen

Locations in the PathwayBrowser

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Literature References

PubMed ID	Title	Journal	Year
9169594	Modification of the N-terminus of human factor IX by defective propeptide cleavage or acetylation results in a destabilized calcium-induced conformation: effects on phospholipid binding and activation by factor XIa Wojcik, EG, Van Den Berg, M, Poort, SR, Bertina, RM	Biochem. J.	1997
2738071	Factor IX San Dimas. Substitution of glutamine for Arg-4 in the propeptide leads to incomplete gamma-carboxylation and altered phospholipid binding properties. Ware, J, Diuguid, DL, Liebman, HA, Rabiet, MJ, Kasper, CK, Furie, BC, Furie, B, Stafford, DW	J Biol Chem	1989
2788012	Defective propeptide processing and abnormal activation underlie the molecular pathology of factor IX Troed-y-Rhiw Liddell, MB, Lillicrap, DP, Peake, IR, Bloom, AL	Br. J. Haematol.	1989

Participants

members

Participates

as an input of

GGCX does not gamma-carboxylate 3D-F9(29-461) (pro-factor IX) (Homo sapiens)

Disease

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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