Species Human Entrez 3930 | Human Mouse Ensembl ENSG00000143815 | |
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Aliases LBR, DHCR14B, LMN2R, PHA, TDRD18, lamin B receptor External IDs OMIM: 600024 MGI: 2138281 HomoloGene: 2455 GeneCards: LBR | ||
Lamin-B receptor is a protein that in humans is encoded by the LBR gene.
Contents
Function
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. 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.
Clinical significance
There is evidence tying it to Greenberg dysplasia and Pelger-Huet anomaly.
Interactions
Lamin B receptor has been shown to interact with CBX3 and CBX5.
References
Lamin B receptor Wikipedia(Text) CC BY-SA