Description
Progerin is a 614 amino acids protein involved in Hutchinson-Gilford progeria syndrome. In most cases, Progerin is generated by a point mutation (C1824T) in the LMNA gene that codes for lamin A and C. This mutation activates a cryptic splice site and gives rise to a form oflamin A with a 50-amino acids internal deletion within the carboxyl-terminal domain of the protein. Approximately 80% of Hutchinson-Gilford progeria syndrome cases carry a single copy of the most common mutation, a silent point mutation, G608G (GGC > GGT), within exon 11 of LMNA gene.
