Gene: LOC100289580

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: PIEZO1

Alternate names for this Gene: DHS|FAM38A|LMPH3|LMPHM6|Mib

Gene 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16q24.3

Description of this Gene: piezo type mechanosensitive ion channel component 1

Type of Gene: protein-coding

rs200970763 in LOC100289580;PIEZO1 gene and DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA PMID 23695678 2013 Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.

PMID 23973043 2014 Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: a case report.

PMID 22529292 2012 Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.

PMID 23581886 2014 Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops.

PMID 23479567 2013 Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.

PMID 23487776 2013 Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1.

rs567292015 in LOC100289580;PIEZO1 gene and Hemoglobin measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs6500493 in LOC100289580;PIEZO1 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6500493 in LOC100289580;PIEZO1 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs567292015 in LOC100289580;PIEZO1 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.