LBR, Official Symbol LBRprovided by HGNC Official Full Name lamin B receptorprovided by HGNC Primary source HGNC:HGNC:6518 See related Ensembl:ENSG00000143815 MIM:600024; AllianceGenome:HGNC:6518 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PHA; C14SR; LMN2R; PHASK; TDRD18; DHCR14B 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] Expression Ubiquitous expression in lymph node (RPKM 40.2), bone marrow (RPKM 33.5) and 23 other tissues See more Orthologs mouse all