ATOX1

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 paternally inherited heterozygous 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

Location

Chromosome 5 (5q33.1)

Function

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 paternally inherited heterozygous 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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