Lamin B1

Function

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.

Involvement in disease

Leukodystrophy, demyelinating, autosomal dominant, adult-onset

ADLD

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

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.

Sequence similarities

Belongs to the intermediate filament family.

Cellular localization

• Nucleus inner membrane
• Lipid-anchor
• Nucleoplasmic side

Alternative names

• Lamin-B1
• LMNB
• LMN2
• LMNB1

Database links

• entrezGene:4001
• omim:150340
• swissprot:P20700

Target type

Proteins

Primary research area

Oncology

Molecular weight

66408Da