PIEZO2

Piezo-type mechanosensitive ion channel component 2 is a is_associated_with::protein that in humans is encoded by the PIEZO2 is_associated_with::gene.

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 (Coste et al., 2010 [PubMed 20813920]).[supplied by OMIM, Nov 2010].

Pathology

 * Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal is_associated_with::Arthrogryposis.
 * PIEZO2 mutations link is_associated_with::Gordon syndrome (distal arthrogryposis type 3), is_associated_with::Marden-Walker syndrome and is_associated_with::Arthrogryposis (Distal Arthrogryposis Type 5).