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.

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A change in the ATOX1 gene was identified in a UDN participant with heart abnormalities, global developmental delay, brain MRI abnormality, and seizures (infantile spasms) that are now well-treated and controlled (read full description).

Date of Report

Feb 23, 2023

Full Name

Antioxidant 1 Copper Chaperone

Chromosome 5 (5q33.1)


ATOX1 gene is responsible for delivering copper to the metal-binding domains of the ATPase proteins, ATP7A and ATP7B (Hussain et al 2008).

Database Links

GeneCards: ATOX1

NCBI Gene: 475

OMIM: 602270

UniProtKB/Swiss-Prot: O00244

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 ATOX1
Inheritance Pattern Unknown
Position (hg19) chr5:g.151122522T>G
Transcript NM_004045.4
DNA Change c.*47-2A>C
Protein Change N/A
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