EC Number |
Protein Variants |
Reference |
---|
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 | more |
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 | more |
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 | more |
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 |