- OMIM: 606 480
- UniProt: O75844
The CAAX Prenylprotease 1 ( Gen: ZMPSTE24 ) is used for processing of the protein lamin A.
Lamin A is a protein of the inner nuclear membrane. Mutations in the lamin A gene lead to eight different diseases, including Hutchinson - Gillford progeria ( HGPS ). Lamin A is first as a precursor protein that Prälamin A synthesized. Then it is processed consuming it results the finished Lamin A protein which is integrated into the nuclear lamina. The zinc metalloprotease 24 leads in this processing by two enzymatic steps. Mutations in the ZMPSTE24 have now been described in several patients with variants of the Hutchinson - Gilford progeria. These are, in contrast to the typical HGPS, inherited in an autosomal recessive manner.
( See diagram. ) First, the fourth- last amino acid of the Prälamin A by the enzyme farnesyl transferase with the terpene Farnesoldiphosphat is prenylated. The enzyme ZMPSTE24 separates from the last three amino acids of the A Prälamin. Now the last amino acid is methylated by methyl transferase enzyme, and the last 15 amino acids of A are separated by the Prälamin ZMPSTE24 again. The result is the finished Lamin A protein ( left), which is incorporated into the cell nucleus.