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EC Number
Protein Variants
Commentary
Reference
3.4.24.84
P248L/Q41X
the mutations are associated with mandibuloacral dysplasia type B and reduced prelamin A cleavage ability
753395
3.4.24.84
P248L/W450X
the mutations are associated with mandibuloacral dysplasia type B and reduced prelamin A cleavage ability
753395
3.4.24.84
W340R/L362F
the mutations are associated with mandibuloacral dysplasia type B and reduced prelamin A cleavage ability
753395
3.4.24.84
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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
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