Symbol ZMPSTE24 HUGO 12877 RefSeq NM_005857 | Entrez 10269 OMIM 606480 UniProt O75844 | |
ZMPSTE24 is a human gene. The protein encoded by this gene is a metallopeptidase. It is involved in the processing of lamin A. Defects in the ZMPSTE24 gene lead to similar laminopathies as defects in lamin A, because the latter is a substrate for the former. In humans, a mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder. Failure to correctly process prelamin A leads to deficient ability to repair DNA double-strand breaks.
References
ZMPSTE24 Wikipedia(Text) CC BY-SA