Lamin A + C R482W Products

LMNA also known as Lamin A/C is a major component of lamina, a thin proteinaceous filamentous meshwork that underlies the inner nuclear membrane. Lamin A/C regulates nuclear shape/rigidity and provides a scaffold-type support for chromosomes or replicating DNA to interact with epigenetic machinery. Lamin A/C is a member of the intermediate filament family. In LMNA gene, missense mutations affecting two residues located within Ig-fold domain are common in laminopathy patients (i) an exchange of arginine 453 by tryptophan (R453W) detected in 16% of autosomal-dominant EDMD cases (11% laminopathy cases), (ii) the substitution of arginine 482 by either tryptophan, glutamine, or leucine (R482W/Q/L), which is responsible for more than 80% of FPLD (familial partial lipodystrophy - 13% laminopathy cases).