2024年12月25日 · LBR (Lamin B Receptor) is a Protein Coding gene. Diseases associated with LBR include Greenberg Dysplasia and Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly. Among its related pathways are superpathway of cholesterol biosynthesis and Gene expression (Transcription).

Lamin-B receptor is a protein, and in humans, it is encoded by the LBR gene. [5][6][7] The protein encoded by this gene belongs to the ERG4 / ERG24 family. It localizes to the inner membrane of the nuclear envelope and anchors the lamina and the heterochromatin to the membrane.

The LBR gene provides instructions for making a protein called the lamin B receptor. Different regions (domains) of this protein give it two distinct functions.

Lamin B receptor (LBR) is an integral protein of the inner nuclear membrane, containing a hydrophilic N -terminal end protruding into the nucleoplasm, eight hydrophobic segments that span the membrane and a short, nucleoplasmic C -terminal tail. Two seemingly unrelated functions have been attributed to LBR.

2022年2月23日 · A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huet anomaly.

Lamin B receptor (LBR) is an integral membrane protein of the interphase nuclear envelope (NE). The N-terminal end resides in the nucleoplasm, binding to lamin B and heterochromatin, with the interactions disrupted during mitosis.

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.

Lamin B receptor (LBR) is a polytopic membrane protein residing in the inner nuclear membrane in association with the nuclear lamina. We demonstrate that human LBR is essential for cholesterol synthesis. LBR mutant derivatives implicated in ...

A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huet anomaly. The role of lamin B receptor in the regulation of senescence-associated secretory phenotype (SASP).

The LBR gene encodes the lamin B receptor, an inner nuclear membrane protein that binds lamin B (LMNB1; 150340 and LMNB2; 150341). The nuclear envelope is composed of the nuclear lamina, the nuclear pore complexes, and the nuclear membranes.