LBR

Chr 1q42.12

lamin B receptor

Aliases:: DHCR14B, TDRD18
MANE:: ENST00000272163.9

OMIM: 600024 ↗NCBI: 3930 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

LBR · Q14739

v62025-08-01

Predicted Aligned Error matrix for LBR — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

76.6/ 100

Confident

615 residues

Confidence breakdown

Very high(≥ 90)45%
Confident(70–90)30%
Low(50–70)2%
Very low(< 50)23%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb disorders
BIALLELIC, autosomal or pseudoautosomal
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

Greenberg dysplasia
0.82
regressive spondylometaphyseal dysplasia
0.73
Pelger-Huet anomaly
0.66
Reynolds syndrome
0.54
Abnormality of the skeletal system
0.44
Jeune syndrome
0.42
Mesomelia
0.37
Rhizomelia
0.37
polydactyly
0.37
Retrognathia
0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Delta(14)-sterol reductase LBR

Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis (PubMed:12618959, PubMed:16784888, PubMed:21327084, PubMed:27336722, PubMed:9630650). Plays a critical role in myeloid cell cholesterol biosynthesis which is essential to both myeloid cell growth and functional maturation (By similarity). Mediates the activation of NADPH oxidases, perhaps by maintaining critical levels of cholesterol required for membrane lipid raft formation during neutrophil differentiation (By similarity). Anchors the lamina and the heterochromatin to the inner nuclear membrane (PubMed:10828963)