Gene: LBR

Alternate names for this Gene: C14SR|DHCR14B|LMN2R|PHA|PHASK|TDRD18

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q42.12

Description of this Gene: lamin B receptor

Type of Gene: protein-coding

rs7406 in LBR gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs587777171 in LBR gene and HEM dysplasia PMID 21327084 2012 Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.

PMID 27336722 2016 The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations.

PMID 12618959 2003 Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.

PMID 27830109 2016 Pelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism.

PMID 18382993 2008 The tentative diagnosis of Greenberg skeletal dysplasia based on pathological findings was confirmed by the identification of a homozygous, N547D amino acid substitution in the LBR gene in the third affected fetus.

rs1057516045 in LBR gene and Hyposegmentation of neutrophil nuclei PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs374343844 in LBR gene and PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES PMID 25348816 2015 An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.

PMID 23824842 2013 Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.

rs1057516045 in LBR gene and Pelger-Huet Anomaly PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 14617022 2003 Lamin B-receptor mutations in Pelger-Huët anomaly.