Entrez gene ID | | 3930 |
Official gene symbol | | LBR |
Full name | | lamin B receptor |
Aliases | | ,DHCR14B,FLJ43126,LMN2R,MGC9041,PHA, |
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] |
Location | | Chromosome: 1 Locus: 1q42.1 |
Gene position | | 225616519 - 225589204 Map Viewer |
Gene orientation | | minus |
Gene size | | 27316 bp |
Gene sequence |
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OMIM ID | | 600024 |