Genomes and Genes
lamin B receptor
Gene Symbol: lamin B receptor
Description: lamin B receptor
Alias: Nbp60, lamin-B receptor, integral nuclear envelope inner membrane protein
Products: lamin B receptor
- Haino M, Kawahire S, Omata S, Horigome T. Purification of a 60 kDa nuclear localization signal binding protein in rat liver nuclear envelopes and characterization of its properties. J Biochem. 1993;113:308-13 pubmed..A nuclear localization signal binding protein with molecular mass of 60 kDa (NBP60) was detected in the extract...
- Shultz L, Lyons B, Burzenski L, Gott B, Samuels R, Schweitzer P, et al. Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huët anomaly. Hum Mol Genet. 2003;12:61-9 pubmed..We recently found that human PHA is caused by mutations in the gene (LBR) encoding lamin B receptor, an evolutionarily conserved inner nuclear membrane protein involved in nuclear assembly and chromatin ..
- Herman G. Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. Hum Mol Genet. 2003;12 Spec No 1:R75-88 pubmed..In this review, an overview of the cholesterol biosynthetic pathway will be presented. Clinical features of the human disorders and mouse models of post-squalene cholesterol biosynthesis will then be discussed. ..
- Waterham H. Defects of cholesterol biosynthesis. FEBS Lett. 2006;580:5442-9 pubmed..The etiology of the underlying pathophysiology may involve multiple affected processes due to lowered cholesterol and/or the elevated, teratogenic levels of the intermediate sterol precursors. ..
- Clayton P, Fischer B, Mann A, Mansour S, Rossier E, Veen M, et al. Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein. Nucleus. 2010;1:354-66 pubmed publisherThe lamin B receptor (LBR) is an inner nuclear membrane protein with a structural function interacting with chromatin and lamins, and an enzymatic function as a sterol reductase...
- Lechner M, Schultz D, Negorev D, Maul G, Rauscher F. The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain. Biochem Biophys Res Commun. 2005;331:929-37 pubmed..Thus, this spectrum of direct binding partners suggests an expanded role for HP1 as factor participating in promoter-enhancer communication, chromatin remodeling/assembly, and sub-nuclear compartmentalization. ..