MGA

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 4, with a history of infantile spasms and an undiagnosed metabolic disorder (elevated alanine and lactate) (read full description).

Date of Report

Sep 11, 2017

Full Name

MAX dimerization protein MGA

Location

Chromosome 15 (15q15.1)

Function

The MGA gene codes for a protein that represses and activates transcription (Hurlin et al., 1999).

Database Links

GeneCards: MGA

NCBI Gene: 23269

OMIM: 616061

UniProtKB/Swiss-Prot: Q8IWI9

Clinical Significance

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

Gene MGA

Inheritance Pattern Autosomal dominant

Position (hg19) chr15:g.42058262G>T

Transcript NM_001164273.1

DNA Change c.7982G>T

Protein Change p.Gly2661Val

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