DescriptionProgerin is a 614 amino acid protein involved in Hutchinson-Gilford progeria syndrome. Progerin is most often generated by a point mutation (C1824T) in the LMNA gene that codes for lamin-A/C. This mutation activates a cryptic splice site and gives rise to a form of lamin A with a 50-amino acid internal deletion within the C-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 the LMNA gene.
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