Lamin A + C R482W Products

Description

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).

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)

Research Areas for Lamin A + C R482W

Find related products by research area and learn more about each of the different research areas below.

Cancer
Chromatin Modifiers
Chromatin Research
DNA replication, Transcription, Translation and Splicing
Nuclear Envelope Markers
Signal Transduction