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Literature summary for 3.4.24.84 extracted from

  • Spear, E.D.; Hsu, E.T.; Nie, L.; Carpenter, E.P.; Hrycyna, C.A.; Michaelis, S.
    ZMPSTE24 missense mutations that cause progeroid diseases decrease prelamin A cleavage activity and/or protein stability (2018), Dis. Model. Mech., 11, dmm033670 .
    View publication on PubMedView publication on EuropePMC
Search for more literature for 3.4.24.84

Protein Variants

Protein Variants Comment Organism
H335A the mutant shows 1.5% of wild type activity Homo sapiens
H339A the mutant shows 1.9% of wild type activity Homo sapiens
L425P the mutation is associated with mandibuloacral dysplasia type B and reduced prelamin A cleavage ability (41.9% of wild type activity) Homo sapiens
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) Homo sapiens
L462R the mutation is associated with restrictive dermopathy and reduced prelamin A cleavage ability (6.5% of wild type activity) Homo sapiens
L94P the mutation with is associated with mandibuloacral dysplasia type B and reduced prelamin A cleavage ability (11.3% of wild type activity) Homo sapiens
N265S the mutant shows 26.2% of wild type activity Homo sapiens
N265S/L362F the mutations are associated with Hutchinson-Gilford progeria syndrome and reduced prelamin A cleavage ability Homo sapiens
N265S/Y70S the mutations are associated with mandibuloacral dysplasia type B and reduced prelamin A cleavage ability Homo sapiens
P248L the mutant shows 20.5% of wild type activity Homo sapiens
P248L/Q41X the mutations are associated with mandibuloacral dysplasia type B and reduced prelamin A cleavage ability Homo sapiens
P248L/W450X the mutations are associated with mandibuloacral dysplasia type B and reduced prelamin A cleavage ability Homo sapiens
W340R the mutant shows 41.7% of wild type activity Homo sapiens
W340R/L362F the mutations are associated with mandibuloacral dysplasia type B and reduced prelamin A cleavage ability Homo sapiens
Y399C the mutation is associated with mandibuloacral dysplasia type B and reduced prelamin A cleavage ability(25.8% of wild type activity) Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining

Metals/Ions

Metals/Ions Comment Organism Structure
Zn2+ contains zinc Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
a-factor + H2O Homo sapiens
-
 ?
-
 ?
prelamin A + H2O Homo sapiens
-
 lamin A + ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens O75844
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
a-factor + H2O
-
 Homo sapiens ?
-
 ?
additional information the enzyme does not cleave mutant prelamin A (L647R) Homo sapiens ?
-
 ?
prelamin A + H2O
-
 Homo sapiens lamin A + ?
-
 ?

Synonyms

Synonyms Comment Organism
Zmpste24
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction enzyme mutations cause the premature aging disease Hutchinson-Gilford progeria syndrome, and the related progeroid disorders mandibuloacral dysplasia type B and restrictive dermopathy Homo sapiens
metabolism the enzyme is crucial for the final step in the biogenesis of the nuclear scaffold protein lamin A Homo sapiens