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

Gene: LOC100289580

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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rs10775348 in PIEZO1;LOC100289580 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs201226914 in PIEZO1;LOC100289580 gene and LYMPHATIC MALFORMATION 6 PMID 26333996 2015 Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.

rs111350029 in PIEZO1;LOC100289580 gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.