AP Anti-Lamin A + Lamin B1 + Lamin C antibody [EPR4068]

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

Lamin A Lamin B1 and Lamin C are nuclear envelope proteins each representing different forms of lamin molecules. These proteins are important components of the nuclear lamina. Lamin A and Lamin C are encoded by the LMNA gene and result from alternative splicing. Lamin A has a molecular weight of approximately 74 kDa while Lamin C weighs around 65 kDa. Lamin B1 with a molecular weight of about 66 kDa is a product of the LMNB1 gene. These proteins express largely in various tissues and are central to maintaining nuclear structure and integrity.

Biological function summary

Lamin proteins regulate nuclear architecture and maintain chromatin organization. They participate in forming the nuclear lamina a dense fibrillar network inside the nucleus. The lamina provides structural support to the nuclear envelope and plays roles in DNA replication and transcription. Lamin molecules also interact with nuclear pore complexes therefore contributing to molecular transport across the nuclear envelope. Lamin A/C and Lamin B1 function together with other proteins like emerin and lamin associated polypeptides in forming multi-protein complexes that influence cell cycle regulation and differentiation.

Pathways

Lamin proteins integrate into pathways governing the cell cycle and DNA repair. They contribute to the mitotic pathway assisting in the disassembly and reassembly of the nuclear envelope during cell division. Lamin molecules also engage in the DNA damage response pathway cooperating with repair proteins such as p53 and BRCA1. Through these pathways lamin proteins ensure proper progression through the cell cycle and maintain genomic stability by aiding in the repair of DNA damage.

Associated diseases and disorders

Lamins associate with a variety of nuclear envelopathies and arepsponsible for rare genetic disorders like Hutchinson-Gilford Progeria Syndrome (HGPS) and Emery-Dreifuss Muscular Dystrophy (EDMD). Mutations in the LMNA gene affect nuclear mechanics leading to accelerated aging in HGPS. Similarly disruptions in lamin A/C's interactions with emerin result in EDMD characterized by muscular dystrophy and cardiac issues. These connections highlight the role of lamin proteins in nuclear stability and their impact on disease development.