Gene Symbol | PIEZO1 |
Entrez Gene ID | 9780 |
Full Name | piezo type mechanosensitive ion channel component 1 |
Synonyms | DHS,FAM38A,LMPH3,Mib |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015]. |
Disorder MIM: | |
Disorder Html: | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3); Lymphedema, hereditary, III, 616843 (3) |