Lamin A/C mutant R453W Antibody ; Mouse Anti-Lamin A/C mutant R453W
Nuclear lamins are intermediate filament proteins that are the major structural component of the nuclear lamina on the inner surface of the nuclear envelope. Lamin A and Lamin C are splice variants of the Lamin A gene. Lamin A/C (CDCD1, LMN1, EMD2) expression is a hallmark of embryonic stem cell differentiation. In addition to adding structural integrity to the nucleus, lamins contribute to the makeup of the nuclear matrix. Lamins also help organize interphase chromatin through interactions with several chromatin proteins, including histones and Lap2, such that alteration in lamin organization (laminopathy) results in disruption of DNA replication, transcription and RNA processing. The R453W mutation is one of the most common causes of autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD)