Lamin B1 ist ein Gen, das durch das Symbol LMNB1 kodiert wird. Im Allgemeinen auch bezeichnet als: Lamin-B1; LMNB1; LMN2; LMNB. Lamin B1 hat eine Masse von 66.41kDa, eine Aminosäurelänge von 586, und ist an Leukodystrophy, demyelinating, autosomal dominant, adult-onset beteiligt.
Wir bieten 12 antikörper gegen Lamin B1, aufgewachsen in Kaninchen, Maus und Ziege, welche geeignet sind für WB, IHC, ELISA, ICC/IF, FC, IP and ChIP mit Proben abgeleitet von Human, Maus, Ratte, Rind, Kaninchen, Schaf, Hund und Zebrafisch.
Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
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.
Sequenzähnlichkeiten
Belongs to the intermediate filament family.
Posttranslationale Modifikation
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.
Zellort
Nucleus inner membrane.
