Zmpste24
Synonym(s)
DefinitionThis section has been translated automatically.
ZMPSTE24 is the acronym for "Zinc metallopeptidase STE24" a gene located on chromosome 1p34. This gene codes for a protein of the same name, a metallopeptidase. The peptidase is involved in the processing of lamin A.
Defects in the ZMPSTE24 gene lead to similar laminopathies as defects caused by mutations in the LMNA gene coding for lamin A.
Mutations in the ZMPSTE24 gene prevent the formation of lamin A from its precursor farnesyl-prelamine A by a defective or missing zinc metallopeptidase STE24. In humans and mice, the absence of Zmpste24 causes progeroid phenotypes. This deficiency increases DNA damage and chromosome aberrations as well as sensitivity to DNA-damaging agents that cause double-strand breaks.
Clinical pictureThis section has been translated automatically.
Pathogenic germline mutation(s): Dysplasia, mandibulo-acrimal, with type B lipodystrophyORPHA:90154
Pathogenic germline mutation(s): Hutchinson-Gilford syndrome (ORPHA:740(
Pathogenic germline mutation(s): lethal restrictive dermatopathy (ORPHA:1662)
LiteratureThis section has been translated automatically.
- Bidier M et al (2018) Restrictive Dermopathy: Four Case Reports and Structural Skin Changes. Acta Derm Venereol 98:807-808.
- Chohan O et al (2016) Restrictive Dermopathy: A Rare Disease with Unusual Radiographic Findings. Del Med J 88:308-310.
- Matulevičienė A et al. (2016) Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy. Clin dysmorphol 25:7-11.