LMNB1 Gene
Lamin B1: Nuclear Lamina Component and Disease Implications
Gene Information Card
| Symbol | LMNB1 |
|---|---|
| Full Name | Lamin B1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q23.2 |
| NCBI Gene ID | 4001 ncbi.nlm.nih.gov/gene/4001 |
| Ensembl ID | ENSG00000113368 |
| UniProt ID | P20700 |
| OMIM ID | 150340 |
| HGNC ID | 6637 |
| Aliases | ADLD, LMN, LMNB, MGC111419 |
Description
LMNB1 encodes lamin B1, a type V intermediate filament protein that forms the nuclear lamina, a fibrous meshwork underlying the inner nuclear membrane. Lamin B1 is essential for nuclear structure integrity, chromatin organization, DNA replication, and cell cycle regulation. Duplications of LMNB1 cause adult-onset autosomal dominant leukodystrophy (ADLD), a progressive neurological disorder characterized by demyelination of the central nervous system.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Adult-onset autosomal dominant leukodystrophy (ADLD) | Duplication of LMNB1 leads to overexpression of lamin B1, disrupting nuclear lamina integrity and causing oligodendrocyte dysfunction and demyelination. | OMIM #169500; Padiath et al., 2006, Nat Genet |
| Leukodystrophy, hypomyelinating, 11 | Missense mutations in LMNB1 are associated with hypomyelinating leukodystrophy, likely due to altered lamin B1 assembly and nuclear envelope defects. | ClinVar; OMIM #616263 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Adipose tissue | 8.2 | Medium |
| Lung | 7.1 | Medium |
| Heart | 6.8 | Medium |
| Liver | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | Cervical carcinoma cell line; high expression |
| K562 | 10.2 | Leukemia cell line; moderate expression |
| HEK293 | 9.5 | Embryonic kidney cells; moderate expression |
| SH-SY5Y | 11.8 | Neuroblastoma cell line; high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Duplication of entire LMNB1 gene | Copy number gain | Rare (founder effect in ADLD families) | Overexpression of lamin B1 leading to nuclear lamina disruption and demyelination |
| c.139C>T (p.Arg47Cys) | Missense | Unknown | Alters lamin B1 assembly; associated with hypomyelinating leukodystrophy |
| c.587G>A (p.Gly196Asp) | Missense | Unknown | Disrupts filament formation; reported in leukodystrophy |
Mutation functional classification
Loss of Function (LOF)
Not established; no clear loss-of-function mutations reported in disease.
Gain of Function (GOF)
Duplication of LMNB1 results in gain of function via overexpression, leading to ADLD.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg47Cys) may act through dominant-negative effects by disrupting lamin B1 polymerization.
View complete mutation data：
Gene Ontology (GO)
| • nuclear envelope (GO:0005635) | • nuclear inner membrane (GO:0005637) |
| • lamin filament (GO:0005638) | • integral component of nuclear inner membrane (GO:0005639) |
| • nuclear envelope organization (GO:0006998) | • meiotic cell cycle (GO:0051321) |
| • nucleoplasm (GO:0005654) |
Pathways
• Nuclear Envelope Breakdown and Reformation (Reactome: R-HSA-2980767)
• Laminin interactions (Reactome: R-HSA-3000157)
• Cell Cycle
• Mitotic (Reactome: R-HSA-69278)
Protein Summary
Lamin B1 (UniProt P20700) is a 586-amino acid protein with a central alpha-helical rod domain flanked by non-helical head and tail domains. It forms homodimers that assemble into higher-order filaments constituting the nuclear lamina. Lamin B1 is farnesylated at its C-terminal CAAX motif, anchoring it to the inner nuclear membrane. It interacts with nuclear envelope proteins such as LAP2, emerin, and MAN1, and plays roles in nuclear stability, gene regulation, and DNA replication.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LMNB1 Knockout HEK293 Cell Line | EDJ-KQ3043 | Human | 4001 | Details Get a Quote |
| LMNB1 Knockout A-549 Cell Line | EDJ-KQ24285 | Human | 4001 | Details Get a Quote |
| LMNB1 Knockout HCT 116 Cell Line | EDJ-KQ24286 | Human | 4001 | Details Get a Quote |
| LMNB1 Knockout HeLa Cell Line | EDJ-KQ24287 | Human | 4001 | Details Get a Quote |
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