MAGIX

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 male, age 39 with involuntary muscle contractions (dystonia), difficulty speaking (dysphonia), and abnormal eye movements (saccadic smooth pursuit) (read full description).

Date of Report

Mar 18, 2019

Full Name

MAGI family member, X-linked

Location

Chromosome X (Xp11.23)

Function

The MAGIX gene codes for a PDZ domain-containing protein. Proteins with these domains are often involved in protein-protein interactions (NCBI).

Database Links

GeneCards: MAGIX

NCBI Gene: 79917

UniProtKB/Swiss-Prot: Q9H6Y5

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 MAGIX

Inheritance Pattern X-linked

Position (hg19) chrX:g.49022697C>G

Transcript NM_024859.2

DNA Change c.964C>G

Protein Change p.Gln322Glu

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