Lamin A + C R482W Products

Description

In eukaryotic organisms, lamin A-type proteins i.e. lamin A/C are major components of lamina, a thin proteinaceous filamentous meshwork that underlies the inner nuclear membrane and besides regulating nuclear shape/rigidity, it also provide a scaffold-type support for chromosomes or replicating DNA to interact with epigenetic machinery. Lamin A/C gene (LMNA) mutations leads to neuromuscular and cardiac dystrophies, lipodystrophies, and premature ageing syndromes. 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). FPLD is a disorder which results in abnormal fat distribution, insulin resistance, dyslipidemia and early cardiac heart disease. Our Lamin A+C R482W (5H8-B4) is a novel monoclonal antibody that specifically detects disease causing point mutants of A-type lamins namely FPLD associated lamin A/C R482W mutant (does not cross-react with wild-type counterpart) and was generated by immunization with a fusion protein consisting of the hepatitis B virus capsid protein, HBcAg, and the lamin A/C Ig-fold R482W domain inserted at the highly immunogenic viral c/e1 epitope. This antibody has been validated by Western blotting, competition experiments, IP, and ICC/IF microscopy assays, can be applied to selectively study features of the mutant A-type lamins in primary patient cells.

Bioinformatics

Entrez	4000 Human
Uniprot	NP_733821.1 Human
Product By Gene ID	4000
Alternate Names	70 kDa Lamin CDCD1 CDDC Charcot Marie Tooth Disease Axonal Type 2B1 CMD1A CMT2B1 EMD2 FPL FPLD HGPS IDC LAMIN A Lamin A/C R82W Lamin A/C LAMIN C LDP1 LFP LGMD1B LMN 1 LMN A LMN C LMN1 LMNA LMNC PRELAMIN A PRO1 Progeria 1 (Hutchinson Gilford Type)