Aliases for LBR Gene
External Ids for LBR Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for LBR Gene
LBR (Lamin B Receptor) is a Protein Coding gene. Diseases associated with LBR include pelger-huet anomaly and reynolds syndrome. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include lamin binding and oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor. An important paralog of this gene is TM7SF2.
UniProtKB/Swiss-Prot for LBR Gene
Anchors the lamina and the heterochromatin to the inner nuclear membrane.