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)

Function

The PIEZO1 gene codes for a protein that induces mechanically activated 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	Inheritance	Position (hg19)	Transcript	DNA Change	Protein Change
PIEZO1	Unknown	chr16:g.88798919G>T & chr16:g.88782205G>C	NM_001142864.2	c.2815C>A & c.7374C>G *Note: variants are in cis	p.Leu939Met & p.Phe2458Leu

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

Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!