PIEZO2

Description

The PIEZO2 (piezo type mechanosensitive ion channel component 2) is a protein-coding gene located on chromosome 18.

PIEZO2, encoded by the PIEZO2 gene, is a protein crucial for touch sensation. Its structure, resembling a nano-dome with a diameter of 28 nanometers, is formed by three blades. PIEZO2 contributes to rapid, pressure-activated currents in sensory neurons. It is found in touch-sensitive cells, like Merkel cells, and is thought to regulate light touch response. Mutations in PIEZO2 can lead to conditions like Distal Arthrogryposis, Gordon syndrome, and Marden-Walker syndrome, highlighting its role in muscle and joint development. Mice lacking PIEZO2 in proprioceptive neurons display uncoordinated movements, indicating its importance for proprioception.

PIEZO2 is a pore-forming subunit of a mechanosensitive non-specific cation channel, essential for rapidly adapting mechanically activated (MA) currents. It plays a crucial role in sensing touch and tactile pain, and is required for Merkel-cell mechanotransduction. PIEZO2 is primarily responsible for light-touch mechanosensation.

PIEZO2 is also known as C18orf30, C18orf58, DA3, DA5, DAIPT, FAM38B, FAM38B2, HsT748, HsT771, MWKS.

Associated Diseases

• Marden-Walker syndrome
• Arthrogryposis, distal, type 5
• Arthrogryposis, distal, type 3
• Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
• Gordon syndrome
• Arthrogryposis, distal, with impaired proprioception and touch