Description
Recombinant prelamin A is a 74 kDa precursor of the nuclear lamin A protein, that is a structural component of the nuclear lamina encoded by lamin A/C gene (LMNA). Due to the presence of a CAAX box sequence at carboxyl terminus, prelamin A in vivo undergoes to serial post-translational modifications, resulting in the farnesylation of the cysteine thiol, removal of the AAX tripeptide, carboxyl-methylation of the cysteinyl carboxyl group and proteolysis of 18 C-terminal amino acids residues that lead to mature lamin A. Different mutations in the LMNA gene have been shown to be associated with different diseases collectively called laminophaties, including Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome.
