This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy.
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Protein Aliases: CAAX prenyl protease 1 homolog; FACE-1; Farnesylated proteins-converting enzyme 1; FLJ14968; Prenyl protein-specific endoprotease 1; zinc metallopeptidase STE24 homolog; Zinc metalloproteinase Ste24 homolog
Gene Aliases: FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p; ZMPSTE24
UniProt ID: (Human) O75844
Entrez Gene ID: (Human) 10269