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Progerin 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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Protein Aliases: 70 kDa lamin; lamin A/C-like 1; Lamin AC; Mutant lamin A/C; Prelamin-A/C; progerin mutant; renal carcinoma antigen NY-REN-32
Gene Aliases: CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNA; LMNC; LMNL1; PRO1
UniProt ID: (Human) P02545
Entrez Gene ID: (Human) 4000
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