Aliases for PIEZO1 Gene
External Ids for PIEZO1 Gene
Previous HGNC Symbols for PIEZO1 Gene
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 FAM38A gene encodes PIEZO1, a protein that induces mechanically activated (MA) currents in various cell types (Coste et al., 2010 [PubMed 20813920]).[supplied by OMIM, Nov 2010]
GeneCards Summary for PIEZO1 Gene
PIEZO1 (Piezo-Type Mechanosensitive Ion Channel Component 1) is a Protein Coding gene. Diseases associated with PIEZO1 include dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema. GO annotations related to this gene include cation channel activity and mechanically-gated ion channel activity. An important paralog of this gene is PIEZO2.
UniProtKB/Swiss-Prot for PIEZO1 Gene
Pore-forming subunit of a mechanosensitive non-specific cation channel. Generates currents characterized by a linear current-voltage relationship and 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 sensors that promote endothelial cell organization and alignment in the direction of blood flow. Plays a key role in blood vessel formation and vascular structure in both development and adult physiology.