Lamin B receptor

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.