Lamin B2

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

Partial acquired lipodystrophy

APLD

A rare childhood disease characterized by loss of subcutaneous fat from the face and trunk. Fat deposition on the pelvic girdle and lower limbs is normal or excessive. Most frequently, onset between 5 and 15 years of age. Most affected subjects are females and some show no other abnormality, but many develop glomerulonephritis, diabetes mellitus, hyperlipidemia, and complement deficiency. Mental retardation in some cases. APLD is a sporadic disorder of unknown etiology.

None

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

Epilepsy, progressive myoclonic 9

EPM9

A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM9 is an autosomal recessive form characterized by myoclonus, tonic-clonic seizures, ataxia, and delayed psychomotor development.

None

The disease may be 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-B2
• LMNB2
• LMN2

Database links

• entrezGene:84823
• omim:150341
• swissprot:Q03252

Target type

Proteins

Molecular weight

69948Da