title: Factor XDebrecen: Gly204Arg mutation in factor X causes the synthesis of a non-secretable protein and severe factor X deficiency.
abstract: Due to a homozygous Gly204Arg mutation in the factor X (FX) gene no detectable FX antigen was found in the plasma of a one-year old patient with severe bleeding diathesis. The amino acid replacement destabilized the disulfide bond that holds the two FX chains together, decreasing the interaction between the Cys201-Cys206 loop region and the region connecting the EGF2 and serine protease domains. Both Gly204 FX and Arg204 FX were synthesized in transfected cells, but only the wild type protein became secreted. The mutant protein was diverted from the normal secretory pathway and retained at the trans Golgi-late endosome level.
authors.affiliation: Clinical Research Center, Thrombosis and Vascular Biology Research Group of Hungarian Academy of Sciences, Debrecen, Hungary.
authors.forename: Zsuzsanna
authors.initials: Z
authors.lastname: Bereczky
authors.forename: Helga
authors.initials: H
authors.lastname: Bárdos
authors.forename: István
authors.initials: I
authors.lastname: Komáromi
authors.forename: Csongor
authors.initials: C
authors.lastname: Kiss
authors.forename: Gizella
authors.initials: G
authors.lastname: Haramura
authors.forename: Eva
authors.initials: E
authors.lastname: Ajzner
authors.forename: Róza
authors.initials: R
authors.lastname: Adány
authors.forename: László
authors.initials: L
authors.lastname: Muszbek
mesh_terms: D019943:Amino Acid Substitution; D002460:Cell Line; D004220:Disulfides / Q000378:metabolism; D011992:Endosomes / Q000235:genetics / Q000378:metabolism*; D005170:Factor X / Q000032:analysis / Q000235:genetics / Q000378:metabolism*; D005171:Factor X Deficiency / Q000235:genetics / Q000378:metabolism*; D006056:Golgi Apparatus / Q000235:genetics / Q000378:metabolism*; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D017434:Protein Structure, Tertiary / Q000235:genetics; D014162:Transfection
chemical_list: D004220:Disulfides; D005170:Factor X