TRA2B

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

transformer 2 beta homolog

Location

Chromosome 3 (3q27.2)

Function

The TRA2B gene codes for proteins involved in splicing (Tacke et al., 1998)

Database Links

GeneCards: TRA2B

NCBI Gene: 6434

OMIM: 602719

UniProtKB/Swiss-Prot: P62995

Clinical Significance

A change in the TRA2B gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene TRA2B

Inheritance Pattern Autosomal dominant

Position (hg19) chr3:g.185655630G>A

Transcript NM_004593.2

DNA Change c.19C>T

Protein Change p.Gln7Ter

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