LBR

Chr 1

lamin B receptor

Also known as: C14SR, DHCR14B, LMN2R, PHA, PHASK, TDRD18

NCBI Gene: 3930 ENSG00000143815 UniProt: Q14739

This protein catalyzes a key step in cholesterol biosynthesis by reducing lanosterol and also anchors the nuclear lamina and heterochromatin to the inner nuclear membrane. Mutations cause a spectrum of disorders including severe Greenberg skeletal dysplasia, Pelger-Huet anomaly (a benign neutrophil nuclear morphology variant), and rhizomelic skeletal dysplasia, with inheritance patterns that are both autosomal recessive and autosomal dominant depending on the specific condition. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.422), reflecting the range from benign to severe phenotypes associated with different mutation types.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPelger-Huet anomaly

UniProtGreenberg dysplasia

UniProtReynolds syndrome

UniProtRhizomelic skeletal dysplasia with or without Pelger-Huet anomaly

Clinical highlights

Gene-disease validity (ClinGen)

Greenberg dysplasia · ARModerateconsider for supplementary testing2 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

376

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.42

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)