Lamin B receptor

Lamin B receptor

PDB rendering based on 2dig.
Identifiers
Symbols LBR; DHCR14B; FLJ43126; LMN2R; MGC9041; PHA
External IDs OMIM600024 MGI2138281 HomoloGene2455 GeneCards: LBR Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 3930 98386
Ensembl ENSG00000143815 ENSMUSG00000004880
UniProt Q14739 Q811V7
RefSeq (mRNA) NM_002296.3 NM_133815.2
RefSeq (protein) NP_002287.2 NP_598576.2
Location (UCSC) Chr 1:
225.59 – 225.62 Mb
Chr 1:
183.75 – 183.77 Mb
PubMed search [1] [2]

Lamin-B receptor is a protein that in humans is encoded by the LBR gene.[1][2][3]

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.[3]

Contents

Clinical significance

There is evidence tying it to Greenberg dysplasia[4] and Pelger-Huet anomaly.[5]

Interactions

Lamin B receptor has been shown to interact with CBX3[6] and CBX5.[6]

References

  1. ^ Schuler E, Lin F, Worman HJ (May 1994). "Characterization of the human gene encoding LBR, an integral protein of the nuclear envelope inner membrane". J Biol Chem 269 (15): 11312–7. PMID 8157663. 
  2. ^ Holmer L, Pezhman A, Worman HJ (Feb 1999). "The human lamin B receptor/sterol reductase multigene family". Genomics 54 (3): 469–76. doi:10.1006/geno.1998.5615. PMID 9878250. 
  3. ^ a b "Entrez Gene: LBR lamin B receptor". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3930. 
  4. ^ Online 'Mendelian Inheritance in Man' (OMIM) 215140
  5. ^ Online 'Mendelian Inheritance in Man' (OMIM) 169400
  6. ^ a b Ye, Q; Worman H J (Jun. 1996). "Interaction between an integral protein of the nuclear envelope inner membrane and human chromodomain proteins homologous to Drosophila HP1". J. Biol. Chem. (UNITED STATES) 271 (25): 14653–6. doi:10.1074/jbc.271.25.14653. ISSN 0021-9258. PMID 8663349. 

Further reading

External links