Lamin B receptor (G-14) 抗体: sc-160482

Lamin B receptor Background Information
Lamin B receptor, also known as LMN2R or LBR, is a 615 amino acid multi-pass membrane protein that localizes to the membrane of the nuclear envelope and belongs to the ERG4/ERG24 family. Interacting directly with HP1å, Lamin B receptor functions to anchor heterochromatin and lamina to the inner nuclear membrane and may also mediate interactions between Lamin B and chromatin. Post-translational phosphorylation of Lamin B receptor is thought to determine the cell cycle phase during which Lamin B receptor exerts its regulatory effects. Defects in the gene encoding Lamin B receptor are a cause of Pelger-Huet anomaly (PHA) and hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM), known more commonly as Greenberg skeletal dysplasia. While PHA is an autosomal dominant disorder characterized by developmental delay, epilepsy and skeletal abnormalities, Lamin B receptor is an autosomal recessive disorder characterized by fetal hydrops and short-limbed dwarfism.