PIEZO1

Chr 16ARAD

piezo type mechanosensitive ion channel component 1 (Er blood group)

Also known as: DHS, ER, FAM38A, LMPH3, LMPHM6, Mib

NCBI Gene: 9780 ENSG00000103335 UniProt: Q92508 OMIM: 611184

The PIEZO1 protein forms mechanically-activated ion channels that sense touch, pressure, and mechanical forces, playing critical roles in blood vessel formation, kidney function, and cellular adhesion. Mutations cause dehydrated hereditary stomatocytosis, a condition affecting red blood cell shape and hydration that follows an autosomal dominant inheritance pattern. This gene is involved in multiple organ systems including hematologic, vascular, and renal systems.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

[ER blood group system]MIM #620207

Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edemaMIM #194380

Lymphatic malformation 6MIM #616843

Clinical highlights

Gene-disease validity (ClinGen)

dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema · ADStrongappropriate for clinical testing2 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

966

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.58

LOEUF

LOF

Mechanism· G2P