Lamin B1 [A11]

A unique family of cysteine proteases has been described that differs in sequence, structure and substrate specificity from any previously described protease family. This family, termed Ced-3/ICE, function as key components of the apoptotic machinery and act to destroy specific target proteins which are critical to cellular longevity. Nuclear Lamins are critical to maintaining the integrity of the nuclear envelope and cellular morphology as components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane which is thought to provide a framework for the nuclear envelope and may also interact with chromatin. B-type Lamins, such as Lamin B1, undergo a series of modifications, such as farnesylation and phosphorylation. Lamin B1 is a 586 amino acid protein that is encoded by a gene which, when mutated, is involved in the pathogenesis of autosomal dominant adult-onset leukodystrophy (ADLD), a disease characterized by cerebellar dysfunction and symmetric demyelination of the central nervous system.