Lmnb2 - lamin B2 Gene

This gene encodes a protein component of the nuclear lamina, which provides a structural framework for the nuclear envelope. Defects in this gene were found to cause abnormalities in the shape of neurons. This locus represents one of two B-type lamin genes that may be partially, but not entirely, functionally redundant in neuronal development. Loss of both B-type lamin genes in keratinocytes results in ichthyosis and a skin barrier defect leading to dehydration. Alternative transcriptional initiation and splicing results in multiple transcript variants and protein isoforms, including an isoform with a shorter N-terminal rod domain that may function in nuclear envelope remodeling during spermatogenesis. A related pseudogene is found on chromosome 5. [provided by RefSeq, Sep 2017]