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<< < Results 11 - 18 of 18
EC Number
Amino acid exchange
Commentary
Reference
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neonates with restrictive dermopathy have homozygous or compound heterozygous null mutations in the ZMPSTE24 gene
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
N265S
4.3% of wild-type activity
P248L
4.6% of wild-type activity
T159/L209del
no residual activity
W302X
the mutation is associated with restrictive dermopathy
W340R
13.7% of wild-type activity
W450X
0.3% of wild-type activity
<< < Results 11 - 18 of 18