LMNB1

Chr 5

lamin B1

Also known as: ADLD, LMN, LMN2, LMNB, MCPH26

NCBI Gene: 4001 ENSG00000113368 UniProt: P20700

The protein is a B-type lamin that forms part of the nuclear lamina structure. Duplications cause autosomal dominant adult-onset leukodystrophy (ADLD), while other mutations result in autosomal dominant primary microcephaly 26. The pathogenic mechanism involves a dominant-negative effect where mutant protein disrupts normal nuclear envelope function.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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. [provided by RefSeq, Dec 2015]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLeukodystrophy, demyelinating, adult-onset, autosomal dominant, typical

UniProtLeukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical

UniProtMicrocephaly 26, primary, autosomal dominant

Clinical highlights

Gene-disease validity (ClinGen)

microcephaly 26, primary, autosomal dominant · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.41

LOEUF

Multiple*

Mechanism· predicted

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GeneReview available — LMNB1