ZMPSTE24 (FACE-1, CAAX prenyl protease 1 homolog) is a membrane associated zinc metalloprotease of the peptidase M48A family. It's catalytic activity can be defined as the peptide bond hydrolyzed in the sequence -C-|-A-A-X in which C is an S-isoprenylated cysteine residue, A is usually aliphatic and X is the C-terminal residue of the substrate protein, and may be any of several amino acids. It has been shown to specifically cleave the final 3 carboxy terminal residues from farnesylated prelamin A to form mature lamin A.
Mutations in ZMPSTE24 have been linked to a rare disorder known as Restrictive dermopathy (Lethal Tight Skin Contracture Syndrome). This syndrome is characterized by intrauterine growth retardation, thin, tightly adherent translucent skin, superficial vessels, typical facial dysmorphism as well as generalized joint contractures. In a sibling study it was shown that 2 frameshift mutations that were inherited in an autosomally...