Lamin B1 è un gene codificato dal simbolo LMNB1. Comunemente indicato anche come: Lamin-B1; LMNB1; LMN2; LMNB. Lamin B1 ha una massa di 66.41kDa, una lunghezza di amminoacidi di 586, ed è implicato in Leukodystrophy, demyelinating, autosomal dominant, adult-onset.
Offriamo 12 anticorpi contro Lamin B1, allevati nel Coniglio, Topo e Capra, che sono adatti per WB, IHC, ELISA, ICC/IF, Citometria a Flusso, IP e ChIP con campioni derivati da Umano, Topo, Ratto, Bovino, Coniglio, Pecora, Cane e Zebrafish.
Informazioni su geni e proteine
Riepilogo 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.
Sommario di 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.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the intermediate filament family.
Modifica post-translazionale
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.
Posizione cellulare
Nucleus inner membrane.
