Lamin B receptor

(Redirected from Greenberg dysplasia)
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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
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RefSeq (mRNA)

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RefSeq (protein)

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

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 the 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]

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] LBR also interacts with long non-coding RNA XIST in mouse cells and potentially assist the spreading XIST across X chromosome.[7]

References

  1. Schuler E, Lin F, Worman HJ (April 1994). "Characterization of the human gene encoding LBR, an integral protein of the nuclear envelope inner membrane". The Journal of Biological Chemistry. 269 (15): 11312–7. PMID 8157663.
  2. Holmer L, Pezhman A, Worman HJ (December 1998). "The human lamin B receptor/sterol reductase multigene family". Genomics. 54 (3): 469–76. doi:10.1006/geno.1998.5615. PMID 9878250.
  3. 3.0 3.1 "Entrez Gene: LBR lamin B receptor".
  4. Online Mendelian Inheritance in Man (OMIM) 215140
  5. Online Mendelian Inheritance in Man (OMIM) 169400
  6. 6.0 6.1 Ye Q, Worman HJ (June 1996). "Interaction between an integral protein of the nuclear envelope inner membrane and human chromodomain proteins homologous to Drosophila HP1". The Journal of Biological Chemistry. 271 (25): 14653–6. doi:10.1074/jbc.271.25.14653. PMID 8663349.
  7. Chen CK, Blanco M, Jackson C, Aznauryan E, Ollikainen N, Surka C, Chow A, Cerase A, McDonel P, Guttman M (October 2016). "Xist recruits the X chromosome to the nuclear lamina to enable chromosome-wide silencing". Science. 354 (6311): 468–472. doi:10.1126/science.aae0047. PMID 27492478.

Further reading

External links