DISEASES

Disease-gene associations mined from literature

Literature associating PIEZO1 and early infantile epileptic encephalopathy 50

PIEZO1 [ENSP00000301015]

Piezo-type mechanosensitive ion channel component 1; Pore-forming subunit of a mechanosensitive non-specific cation channel. Generates currents characterized by a linear current-voltage relationship that are sensitive to ruthenium red and gadolinium. Plays a key role in epithelial cell adhesion by maintaining integrin activation through R-Ras recruitment to the ER, most probably in its activated state, and subsequent stimulation of calpain signaling. In the kidney, may contribute to the detection of intraluminal pressure changes and to urine flow sensing. Acts as shear-stress sensor that promotes endothelial cell organization and alignment in the direction of blood flow through calpain activation. Plays a key role in blood vessel formation and vascular structure in both development and adult physiology (By similarity); Belongs to the PIEZO (TC 1.A.75) family.

Synonyms:  PIEZO1,  PIEZO1p,  hPIEZO1,  E7EUT2,  H7C2J5 ...

Linkouts:  STRING  Pharos  UniProt