EC Number   |
Protein Variants |
Reference |
|---|
   3.4.24.84 | L438F |
the mutation is associated with metabolic syndrome and non-alcoholic fatty liver disease and reduced prelamin A cleavage ability (52.7% of wild type activity) |
753395 |
| 3.4.24.84 | L462R |
the mutation is associated with restrictive dermopathy and reduced prelamin A cleavage ability (6.5% of wild type activity) |
753395 |
| 3.4.24.84 | L647R |
prelaminaAct mutant, cannot be cleaved by Zmpste24 |
667497 |
| 3.4.24.84 | L94P |
2.8% of wild-type activity |
735044 |
| 3.4.24.84 | L94P |
the mutation severely impairs enzyme activity |
755334 |
| 3.4.24.84 | L94P |
the mutation with is associated with mandibuloacral dysplasia type B and reduced prelamin A cleavage ability (11.3% of wild type activity) |
753395 |
| 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 | more |
neonates with restrictive dermopathy have homozygous or compound heterozygous null mutations in the ZMPSTE24 gene |
719313 |
| 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 | N265S |
4.3% of wild-type activity |
735044 |
