ZMPSTE24


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ZMPSTE24

A gene on chromosome 1p34 that encodes a member of the M48A peptidase amily, which is a zinc metalloproteinase involved in the post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A.
 
Molecular pathology
ZMPSTE24 mutations are linked to mandibuloacral dysplasia and restrictive dermopathy.
References in periodicals archive ?
Surprisingly, fibroblasts from an RD patient with a homozygous null mutation in ZMPSTE24, resulting in exclusive accumulation of prelamin A with no lamin A on immunoblotting of cellular lysate, exhibited few nuclear abnormalities and near-normal cellular proliferation.
Jung et al., "MicroRNA-141-3p plays a role in human mesenchymal stem cell aging by directly targeting ZMPSTE24," Journal of Cell Science, vol.
This results in the deletion of site ZMPSTE24, demonstrating a permanent farnesylated protein leading to abnormal nucleus.
Other studies show that mutations in a second gene ZMPSTE24, have been found in patients with HGPS11.