Filamin B, beta (FLNB), also known as Filamin B, beta (truncated actin binding protein 278 homolog), is a
cytoplasm
The cytoplasm describes all the material within a eukaryotic or prokaryotic cell, enclosed by the cell membrane, including the organelles and excluding the nucleus in eukaryotic cells. The material inside the nucleus of a eukaryotic cell a ...
ic
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
which in humans is encoded by the ''FLNB''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
FLNB regulates intracellular communication and signalling by cross-linking the protein
actin
Actin is a family of globular multi-functional proteins that form microfilaments in the cytoskeleton, and the thin filaments in muscle fibrils. It is found in essentially all eukaryotic cells, where it may be present at a concentration of ...
to allow direct communication between the
cell membrane
The cell membrane (also known as the plasma membrane or cytoplasmic membrane, and historically referred to as the plasmalemma) is a biological membrane that separates and protects the interior of a cell from the outside environment (the extr ...
and
cytoskeletal network, to control and guide proper skeletal development.
Mutations in the FLNB gene are involved in several
lethal bone dysplasias, including
boomerang dysplasia and
atelosteogenesis type I.
Interactions
FLNB has been shown to
interact with
GP1BA
Platelet glycoprotein Ib alpha chain, also known as glycoprotein Ib (platelet), alpha polypeptide or CD42b (Cluster of Differentiation 42b), is a protein that in humans is encoded by the ''GP1BA'' gene.
Function
Glycoprotein Ib (GP Ib) is a ...
,
Filamin Filamins are a class of proteins that hold two actin filaments at large angles. Filamin protein in mammals is made up of an actin-binding domain at its N-terminus that is followed by 24 immunoglobulin-like repeat modules of roughly 95 amino acids
...
,
,
PSEN1
Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the ''PSEN1'' gene. Presenilin-1 is one of the four core proteins in the gamma secretase complex, which is considered to play an important role in generation of amyloid bet ...
,
and
PSEN2
Presenilin-2 is a protein that (in humans) is encoded by the ''PSEN2'' gene.
Function
Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins ( PSEN1; PSEN2) or the amyloid precursor ...
.
[
]
See also
* Larsen syndrome
Larsen syndrome (LS) is a congenital disorder discovered in 1950 by Larsen and associates when they observed dislocation of the large joints and face anomalies in six of their patients.Mitra, N., Kannan, N., Kumar, V.S., Kavita, G. "Larsen Syndrom ...
References
External links
GeneReview/NIH/UW entry on FLNB-Related Disorders
Further reading
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{{Cytoskeletal proteins