LMNA Antibody – Rabbit Polyclonal

The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]

lamin A/C: nuclear lamins are intermediate filament proteins that constitute the lattice-like matrix at the inner face of the nuclear membrane that underlies the nuclear envelop. The lamins, highly conserved throughout evolution, are encoded by three genes in the human: LMNA, LMNB1, and LMNB2. The A-type lamins (lamin A/C) are developmentally regulated and are generally expressed in differentiated cells. The anchoring of chromatin to the nuclear lamina is involved in the control of gene expression and in DNA replication and repair. During mitosis, the nuclear lamina is reversibly disassembled as the lamin proteins are phosphorylated. Cleaved by caspase-6 during apoptosis into a 40-45 kDa and a28 kDa fragment.

Protein type: Cytoskeletal

Chromosomal Location of Human Ortholog: 1q22

Cellular Component: nucleoplasm; nuclear lamina; nuclear membrane; perinuclear region of cytoplasm; cytoplasm; lamin filament; intermediate filament; nuclear speck; nuclear envelope; nucleus; cytosol

Molecular Function: protein binding; structural molecule activity

Biological Process: muscle development; mitotic nuclear envelope reassembly; apoptosis; unfolded protein response; ventricular cardiac muscle cell development; mitotic nuclear envelope disassembly; regulation of cell migration; cellular protein metabolic process; unfolded protein response, activation of signaling protein activity; sterol regulatory element binding protein nuclear translocation; mitotic cell cycle; cell structure disassembly during apoptosis; establishment and/or maintenance of microtubule cytoskeleton polarity

Disease: Heart-hand Syndrome, Slovenian Type; Emery-dreifuss Muscular Dystrophy 2, Autosomal Dominant; Restrictive Dermopathy, Lethal; Muscular Dystrophy, Congenital, Lmna-related; Mandibuloacral Dysplasia With Type A Lipodystrophy; Emery-dreifuss Muscular Dystrophy 3, Autosomal Recessive; Charcot-marie-tooth Disease, Axonal, Type 2b1; Lipodystrophy, Familial Partial, Type 2; Hutchinson-gilford Progeria Syndrome; Cardiomyopathy, Dilated, 1a; Muscular Dystrophy, Limb-girdle, Type 1b; Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism