Literature associating PIEZO1 and congenital nonspherocytic hemolytic anemia
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). ECO:0000269|PubMed:23479567, ECO:0000269|PubMed:23695678,; Belongs to the PIEZO (TC 1.A.75) family.
Synonyms: PIEZO1, PIEZO1p, hPIEZO1, E7EUT2, H0YB49 ...