DUOX2

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.

A change in this gene was identified in a female, age 2 with an undiagnosed condition (read full description).

Date of Report

Apr 25, 2016

Full Name

Dual oxidase 2

Location
Chromosome 15 (15q21.1)
DUOX2-chr15.png

Function

The DUOX2 gene codes for a protein involved in the protein complex responsible for the synthesis of thyroid hormone (De Deken et al., 2000 ).

Database Links

GeneCards: GC15M045092

Genetics Home Reference: DUOX2

NCBI Gene: 50506

OMIM: 606759

UniProtKB/Swiss-Prot: Q9NRD8

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene DUOX2
Inheritance Pattern Autosomal dominant
Position chr15:45403695
Transcript NM_014080.4
DNA Change c.602dupG
Protein Change p.Q202TfsX99
Contact Us

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