Lamin-B receptor is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
, and in humans, it is encoded by the ''LBR''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
Function
The protein encoded by this gene belongs to the
ERG4/
ERG24 family. It localizes to the
inner membrane of the
nuclear envelope
The nuclear envelope, also known as the nuclear membrane, is made up of two lipid bilayer membranes that in eukaryotic cells surround the nucleus, which encloses the genetic material.
The nuclear envelope consists of two lipid bilayer membrane ...
and anchors the lamina and the
heterochromatin
Heterochromatin is a tightly packed form of DNA or '' condensed DNA'', which comes in multiple varieties. These varieties lie on a continue between the two extremes of constitutive heterochromatin and facultative heterochromatin. Both play a role ...
to the membrane. It may mediate the interaction between chromatin and
lamin B
Lamin B2 is a protein that in humans is encoded by the ''LMNB2'' gene. It is the second of two type B nuclear lamins, and it is associated with laminopathies.
Model organisms
Model organisms have been used in the study of Lamin B2 function. A ...
. 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.
Clinical significance
There is evidence tying it to
Greenberg dysplasia and
Pelger-Huet anomaly.
Interactions
Lamin B receptor has been shown to
interact
Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...
with
CBX3
Chromobox protein homolog 3 is a protein that is encoded by the ''CBX3'' gene in humans.
At the nuclear envelope, the nuclear lamina and heterochromatin are adjacent to the inner nuclear membrane. The protein encoded by this gene binds DNA and is ...
and
CBX5.
[ LBR also interacts with ]long non-coding RNA
Long non-coding RNAs (long ncRNAs, lncRNA) are a type of RNA, generally defined as transcripts more than 200 nucleotides that are not translated into protein. This arbitrary limit distinguishes long ncRNAs from small non-coding RNAs, such as mic ...
XIST in mouse cells and potentially assist the spreading XIST across X chromosome
The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females. It is a part of the XY sex-determination system and XO sex-d ...
in differentiating female embryonic stem cells, but it might be redundant for correct XCI in vivo.
References
Further reading
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External links
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{{receptor-stub
Receptors