Protein Name lamin B receptor
Organism Homo sapiens
Gene ID 3930
Gene Symbol

LBR

UniProt Q14739 (LBR_HUMAN)
Relationships Total Number of functionally related compound(s) : 278
Total Number of Articles : 250
Description

lamin B receptor

Gene Summary

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]

synonyms
  • delta(14)-sterol reductase LBR
  • 3-beta-hydroxysterol Delta (14)-reductase
  • C-14 sterol reductase
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Properties