FLNB
Encyclopedia
Filamin B, beta, also known as FLNB, is a human cytoplasm
ic protein
. It regulates intracellular communication and signalling by cross-linking the protein actin
to allow direct communication between the cell membrane
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.
with GP1BA
, Filamin
, FBLIM1
, PSEN1
, CD29
and PSEN2
.
Cytoplasm
The cytoplasm is a small gel-like substance residing between the cell membrane holding all the cell's internal sub-structures , except for the nucleus. All the contents of the cells of prokaryote organisms are contained within the cytoplasm...
ic protein
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
. It regulates intracellular communication and signalling by cross-linking the protein actin
Actin
Actin is a globular, roughly 42-kDa moonlighting protein found in all eukaryotic cells where it may be present at concentrations of over 100 μM. It is also one of the most highly-conserved proteins, differing by no more than 20% in species as diverse as algae and humans...
to allow direct communication between the cell membrane
Cell membrane
The cell membrane or plasma membrane is a biological membrane that separates the interior of all cells from the outside environment. The cell membrane is selectively permeable to ions and organic molecules and controls the movement of substances in and out of cells. It basically protects the cell...
and cytoskeletal network
Cytoskeleton
The cytoskeleton is a cellular "scaffolding" or "skeleton" contained within a cell's cytoplasm and is made out of protein. The cytoskeleton is present in all cells; it was once thought to be unique to eukaryotes, but recent research has identified the prokaryotic cytoskeleton...
, to control and guide proper skeletal development.
Mutations in the FLNB gene are involved in several lethal bone dysplasias
Osteochondrodysplasia
Osteochondrodysplasia is a general term for a disorder of the development of bone and cartilage .-Achondroplasia:Achondroplasia is a type of autosomal dominant genetic disorder that is a common cause ofdwarfism...
, including boomerang dysplasia
Boomerang dysplasia
Boomerang dysplasia is a lethal form of osteochondrodysplasia known for a characteristic congenital feature in which bones of the arms and legs are malformed into the shape of a boomerang...
and atelosteogenesis type I.
Interactions
FLNB has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with GP1BA
GP1BA
Glycoprotein Ib , alpha polypeptide also known as CD42b , is a human gene.-Interactions:GP1BA has been shown to interact with YWHAZ and FLNB.-Further reading:...
, Filamin
Filamin
Filamins are a class of proteins that hold two actin filaments at large angles.Types include:* FLNA* FLNB* FLNC...
, FBLIM1
FBLIM1
Filamin-binding LIM protein 1 is a protein that in humans is encoded by the FBLIM1 gene.-Interactions:FBLIM1 has been shown to interact with Filamin, PLEKHC1 and FLNB.-Further reading:...
, PSEN1
PSEN1
Presenilin-1 is a protein that in humans is encoded by the PSEN1 gene.- Function :Alzheimer's disease patients with an inherited form of the disease carry mutations in the presenilin proteins or the amyloid precursor protein...
, CD29
CD29
Integrin beta-1 is a protein that in humans is encoded by the ITGB1 gene. CD29 is an integrin unit associated with very late antigen receptors. It is known to conjoin with alpha-3 subunit to create α3β1 complex that reacts to such molecules as netrin-1 and reelin.Integrins are heterodimeric...
and PSEN2
PSEN2
Presenilin-2 is a protein that in humans is encoded by the PSEN2 gene.- Function :Alzheimer's disease patients with an inherited form of the disease carry mutations in the presenilin proteins or the amyloid precursor protein...
.