PIEZO1

On this page, you will find information about a genetic change that was identified in a UDN participant. 

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

A change in this gene was identified in a male, age 5 with absolute iron deficiency anemia (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: GC16M088781

Genetics Home Reference: PIEZO1 gene

NCBI Gene: 9780

OMIM: 611184

UniProtKB/Swiss-Prot: Q92508

Clinical Significance

Two variants of uncertain significance in this gene were identified in a UDN participant

Gene PIEZO1
Inheritance Pattern Autosomal dominant/Autosomal recessive
Position Chr16: 88798919 & Chr16: 88782205
Transcript NM_001142864
DNA Change c.2815C>A & c.7374C>G *Note: variants are in cis
Protein Change p.L939M & p.F2458L

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!

Top