Lamin B1 est un gène codé par le symbole LMNB1. Communément appelé aussi: Lamin-B1; LMNB1; LMN2; LMNB. Lamin B1 a une masse de 66.41kDa, une longueur d'acide aminé de 586, et est impliqué dans Leukodystrophy, demyelinating, autosomal dominant, adult-onset.
Nous proposons 12 des anticorps contre Lamin B1, élevé dans Lapin, Souris et Chèvre, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF, Cytométrie en Flux, IP et ChIP avec des échantillons dérivés de Humain, Souris, Rat, Bovin, Lapin, Mouton, Canin et Poisson Zèbre.
Informations sur les Gènes et les Protéines
Résumé UniProt
Lamins are 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.
Résumé Entrez
This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. A duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). Alternative splicing results in multiple transcript variants.
Implication dans la maladie
Leukodystrophy, demyelinating, autosomal dominant, adult-onset: A slowly progressive and fatal demyelinating leukodystrophy, presenting in the fourth or fifth decade of life. Clinically characterized by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS. It differs from multiple sclerosis and other demyelinating disorders in that neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis.
Similitudes de séquence
Belongs to the intermediate filament family.
Modification post-traductionnelle
B-type lamins undergo a series of modifications, such as farnesylation and phosphorylation. Increased phosphorylation of the lamins occurs before envelope disintegration and probably plays a role in regulating lamin associations.
Localisation cellulaire
Nucleus inner membrane.
