Lamin A + C R482W Products

Lamin A + C R482W Antibody (5 ...
Lamin A + C R482W Antibody (5H8-B4)
Species: Hu
Applications: WB, ELISA, ICC/IF, IP
Host: Mouse Monoclonal


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).


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

Research Areas for Lamin A + C R482W

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

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

Bioinformatics Tool for Lamin A + C R482W

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