Orphanet: piezo type mechanosensitive ion channel component 1

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PIEZO1 - piezo type mechanosensitive ion channel component 1

Synonym(s) : KIAA0233
Previous symbols and names : FAM38A, Family with sequence similarity 38, member A, piezo-type mechanosensitive ion channel component 1
Type : gene with protein product
Chromosomal location : 16q24.3
OMIM: 611184
HGNC: 28993
UniProtKB: Q92508
Genatlas: PIEZO1
Ensembl: ENSG00000103335
IUPHAR-DB: -
Reactome: -
LOVD: PIEZO1

Diseases list

Disease-causing germline mutation(s) (gain of function) in Dehydrated hereditary stomatocytosis ORPHA:3202

: Assessed

Gene included in a panel of genes performed as part of a diagnostic test

Additional information

Patient-centred resources for this gene

Diagnostic tests (23)

Research activities on this gene

Specialised Social Services

Eurordis directory

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