Piezo-type mechanosensitive ion channel component 2 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 ...
that in humans is encoded by the PIEZO2
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 ...
.
[
] It has a homotrimeric structure, with three blades curving into a nano-dome, with a diameter of 28 nanometers.
Function
Piezos are large transmembrane proteins conserved among various species, all having between 24 and 36 predicted transmembrane domains. 'Piezo' comes from the Greek 'piesi,' meaning 'pressure.' The PIEZO2 protein has a role in rapidly adapting mechanically activated (MA) currents in somatosensory neurons. Its structure is resolved via a mouse version in 2019, showing the predicted homotrimeric propeller.
PIEZO2 is typically found in tissues that respond to physical touch, such as
Merkel cell
Merkel cells, also known as Merkel-Ranvier cells or tactile epithelial cells, are oval-shaped mechanoreceptors essential for light touch sensation and found in the skin of vertebrates. They are abundant in highly sensitive skin like that of the f ...
s, and is thought to regulate light touch response.
Pathology
* Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal
Arthrogryposis Arthrogryposis (AMC) describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning "curving of joints" (', "joint"; ', late Latin form of late Greek ', "hooking").
Children born with one ...
.
* Mice without PIEZO2 in their proprioceptive neurons show uncoordinated body movements, indicating that PIEZO2 plays a role in mammalian
proprioception
Proprioception ( ), also referred to as kinaesthesia (or kinesthesia), is the sense of self-movement, force, and body position. It is sometimes described as the "sixth sense".
Proprioception is mediated by proprioceptors, mechanosensory neurons ...
.
* PIEZO2 mutations link
Gordon syndrome
Gordon syndrome, or distal arthrogryposis type 3, is a rare genetic disorder characterized by cleft palate and congenital contractures of the hands and feet. Signs and symptoms
Other signs and symptoms include short stature, bifid uvula, hip disl ...
(distal arthrogryposis type 3),
Marden-Walker syndrome and
Arthrogryposis Arthrogryposis (AMC) describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning "curving of joints" (', "joint"; ', late Latin form of late Greek ', "hooking").
Children born with one ...
(Distal Arthrogryposis Type 5).
See also
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PIEZO1
Piezo1 is a mechanosensitive ion channel protein that in humans is encoded by the gene ''PIEZO1''. Piezo1 and its close homolog PIEZO2, Piezo2 were cloned in 2010, using an siRNA-based screen for mechanosensitive ion channels.
Structure and fun ...
References
Further reading
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