ZMPSTE24
zinc metallopeptidase (STE24 homolog, S. cerevisiae) | |||||||
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Identifiers | |||||||
Symbol | ZMPSTE24 | ||||||
NCBI gene | 10269 | ||||||
HGNC | 12877 | ||||||
OMIM | 606480 | ||||||
RefSeq | NM_005857 | ||||||
UniProt | O75844 | ||||||
Other data | |||||||
EC number | 3.4.24.84 | ||||||
Locus | Chr. 1 p34 | ||||||
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ZMPSTE24 is a human gene.[1][2] The protein encoded by this gene is a metallopeptidase. It is involved in the processing of lamin A.[3] Defects in the ZMPSTE24 gene lead to similar laminopathies as defects in lamin A, because the latter is a substrate for the former.[4] In humans, a mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder.[5] Failure to correctly process prelamin A leads to deficient ability to repair DNA double-strand breaks.[6][7]
As shown by Liu et al.,[8] lack of Zmpste24 prevents lamin A formation from its precursor farnesyl-prelamin A. Lack of ZMPSTE24 causes progeroid phenotypes in mice and humans. This lack increases DNA damage and chromosome aberrations and sensitivity to DNA-damaging agents that cause double-strand breaks. Also, lack of ZMPSTE24 allows an increase in non-homologous end joining, but a deficiency in steps leading to homologous recombinational DNA repair.
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