LBR Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis. Plays a critical role in myeloid cell cholesterol biosynthesis which is essential to both myeloid cell growth and functional maturation. Mediates the activation of NADPH oxidases, perhaps by maintaining critical levels of cholesterol required for membrane lipid raft formation during neutrophil differentiation. Anchors the lamina and the heterochromatin to the inner nuclear membrane. Belongs to the ERG4/ERG24 family. Expressed in the bone marrow, liver, heart, adrenal gland, lung, placenta and uterus (PubMed:16784888). Expressed in osteoclasts and osteoblast-like cells (PubMed:21327084). Note: This description may include information from UniProtKB.
Protein type: DNA-binding; Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 1q42.12
Cellular Component:  cytoplasm; endoplasmic reticulum membrane; integral component of membrane; integral component of nuclear inner membrane; nuclear envelope; nuclear membrane; nucleus
Molecular Function:  chromo shadow domain binding; delta14-sterol reductase activity; DNA binding; lamin binding; NADPH binding; protein binding
Biological Process:  cholesterol biosynthetic process; neutrophil differentiation; oxidation-reduction process
Disease: Greenberg Dysplasia; Pelger-huet Anomaly; Pelger-huet Anomaly With Mild Skeletal Anomalies; Reynolds Syndrome
Reference #:  Q14739 (UniProtKB)
Alt. Names/Synonyms: 3-beta-hydroxysterol Delta (14)-reductase; C-14 sterol reductase; C14SR; Delta(14)-sterol reductase LBR; Delta-14-SR; DHCR14B; FLJ43126; Integral nuclear envelope inner membrane protein; lamin B receptor; Lamin-B receptor; LBR; LMN2R; MGC9041; PHA; PHASK; Sterol C14-reductase; TDRD18; tudor domain containing 18
Gene Symbols: LBR
Molecular weight: 70,703 Da
Basal Isoelectric point: 9.41  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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