DISEASES

Disease-gene associations mined from literature

Literature associating PIEZO1 and congenital 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 ...

Linkouts:  STRING  Pharos  UniProt