Bereczky, Zsuzsanna and Bárdos, Helga and Komáromi, István and Kiss, Csongor and Haramura, Gizella and Ajzner, Éva and Ádány, Róza and Muszbek, László (2008) Factor XDebrecen: Gly204Arg mutation in factor X causes the synthesis of a non-secretable protein and severe factor X deficiency. HAEMATOLOGICA, 93 (2). pp. 299-302. ISSN 0390-6078
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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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | Male; Humans; amino acid substitution; Transfection; Cell Line; Infant; *Mutation, Missense; Homozygote; Disulfides/metabolism; Protein Structure, Tertiary/genetics; Golgi Apparatus/genetics/*metabolism; Factor X Deficiency/genetics/*metabolism; Factor X/analysis/genetics/*secretion; Endosomes/genetics/*metabolism; |
| Subjects: | R Medicine / orvostudomány > R1 Medicine (General) / orvostudomány általában |
| SWORD Depositor: | MTMT SWORD |
| Depositing User: | MTMT SWORD |
| Date Deposited: | 31 Jan 2025 11:30 |
| Last Modified: | 31 Jan 2025 11:30 |
| URI: | https://real.mtak.hu/id/eprint/214744 |
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