| Modification Notes |
FACE-1, or Zinc metalloproteinase Ste24 homolog (Zmpste24), is a metalloproteinase responsible for cleaving prelamin A to lamin A, a component of the nuclear envelope. An integral membrane protein, FACE-1 is widely expressed in tissues throughout the human body and uses zinc as a cofactor, with one zinc ion per subunit. Mutations in the FACE-1 gene are linked to laminopathies in humans, including restrictive dermopathy (RD) and mandibuloacral dysplasia (MAD), both characterized by severe developmental abnormalities and in the case of RD, early neonatal death. Accumulation of unprocessed prelamin A may be responsible for deficits associated with these genetic disorders. |