Recombinant Human Lamin-B receptor (LBR), Truncated

Uniprot Id

Q14739

Target Species

Human

Target Name

LBR

Target Full Name

Delta(14)-sterol reductase LBR

Target Function

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.

Target Involvement

Pelger-Huet anomaly (PHA); Greenberg dysplasia (GRBGD); Reynolds syndrome (REYNS)

Target Subcellular Location

Nucleus inner membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane. Cytoplasm. Nucleus.

Target Protein Families

ERG4/ERG24 family

Target Tissue Specificity

Expressed in the bone marrow, liver, heart, adrenal gland, lung, placenta and uterus. Expressed in osteoclasts and osteoblast-like cells.

Target Synonyms

DHCR 14B; DHCR14B; Integral nuclear envelope inner membrane protein; Lamin-B receptor; LBR; LBR_HUMAN; LMN 2R; LMN2R; MGC9041; PHA; PRO0650

Target Background

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.