3.4.24.84 E298A ability to complement the mating-defective phenotype of ste24-1 is lost 638973 3.4.24.84 E298D ability to complement the mating-defective phenotype of ste24-1 is lost 638973 3.4.24.84 H297A ability to complement the mating-defective phenotype of ste24-1 is lost 638973 3.4.24.84 L647R prelaminaAct mutant, cannot be cleaved by Zmpste24 667497 3.4.24.84 additional information Zmste24-deficient mice, Zmpste24 deficiency elicits a stress signaling pathway that is evidenced by a marked upregulation of p53 target genes, accompanied by a senescence phenotype at the cellular level and accelerated ageing at the organismal level 670378 3.4.24.84 additional information identification of compound heterozygous frameshifting mutations in exon 1, c.50delA, and exon 5, c.584_585delAT of the ZMPSTE24 gene in two brothers affected with restrictive dermopathy, who died in the neonatal period. Both deletions are frameshifting and are predicted to cause the appearance of premature termination codons 710803 3.4.24.84 L362F the mutation is associated with restrictive dermopathy 719313 3.4.24.84 additional information neonates with restrictive dermopathy have homozygous or compound heterozygous null mutations in the ZMPSTE24 gene 719313 3.4.24.84 W302X the mutation is associated with restrictive dermopathy 719313 3.4.24.84 H335A 0.4% of wild-type activity 735044