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US 11,390,854 B2Granted
Human porphobilinogen deaminase derived proteins and polynucleotides and uses thereof
AssigneeFundacióN Para La InvestigacióN MéDica Aplicada
InventorsAntonio Fontanellas Roma, Irantzu Serrano Mendioroz, Pedro Berraondo Lopez
Life of this patent
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Abstract
The present disclosure relates to human porphobilinogen deaminase derived proteins and polynucleotides and methods of using these proteins and polynucleotides.
Claims31
A polypeptide comprising a) a human non-erythropoietic housekeeping porphobilinogen deaminase (PBGD) comprising at least one amino acid mutation with respect to SEQ ID NO:2 selected from the group consisting of mutations N340S, I291M, H199Q, H120Y, and S344N;
- or b) a human erythropoietic PBGD comprising at least one amino acid mutation with respect to SEQ ID NO:4 selected from the group consisting of mutations N323S, I274M, H182Q, H103Y, and S327N.
Dependencies are inferred from the claim text.