Background: EFL1 and the protein mutated in the Shwachman-Diamond syndrome (SBDS) participate in the maturation of the 60S ribosomal subunit. Results: SBDS increases the dissociation constant of EFL1 for GDP 60-fold. SBDS S143L disease mutation disrupts the interaction with EFL1. Conclusion: SBDS favors GDP dissociation from EFL1 and disease mutations abolishe this function. Significance: SBDS disease mutations prevent the nucleotide exchange regulation on EFL1.

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