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PIEZO1

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

Changes in the PIEZO1 gene were identified in a male, age 5, with absolute iron deficiency anemia, behavioral problems, and recurrent infections (read full description).

Date of Report

Jul 18, 2017

Full Name

Piezo-type mechanosensitive ion channel component 1

Location
Chromosome 16 (16q24.3)
PIEZO1_chr16.88798919.88782205.png

Function

The PIEZO1 gene codes for a protein that induces mechanically activiated currents in various cell types (Coste et al., 2010).

Database Links

GeneCards: PIEZO1

NCBI Gene: 9780

OMIM: 611184

UniProtKB/Swiss-Prot: Q92508

Clinical Significance

Changes in this gene were identified in a UDN participant. 

Gene PIEZO1
Inheritance Pattern Unknown
Position (hg19) chr16:g.88798919G>T & chr16:g.88782205G>C
Transcript NM_001142864.2
DNA Change c.2815C>A & c.7374C>G *Note: variants are in cis
Protein Change p.Leu939Met & p.Phe2458Leu

Of note: The protein coded for by this gene was not found to be defective.

 

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