Lamin A + C R453W Products

Description

The lamin A gene is important in making nuclear structure and substructures for DNA replication appropriately in cells. The R453W mutation of LMNA, however, negates much of these normal characteristics, and instead causes the phenotypes of Emery-Dreifuss muscular dystrophy (EDMD). The mutation impairs myoblast formation and differentiation, and contributes to muscle wasting. R453W lamin changes the location of the H2K27me3 modified histone interaction with chromatin, which inactivates certain downstream genes. It also affects the normal lamin function of scaffolding substrates for the MEK-ERK pathway, and disrupts the structure of other binding sites. Thus, R453W seems to cause phenotypes of muscular dystrophy both through direct genetic impact, but also through epigenetic influence over normal scaffolding functionality related to DNA replication.

Bioinformatics

Entrez	4000 Human
Uniprot	NP_733821.1 Human
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 R453W 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 R453W

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