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GABRB2

On this page, you will find information about a genetic change that was identified in a UDN participant.

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 female, age 12, with epileptic encephalopathy (read full description). 

Date of Report

Jun 26, 2018

Full Name

gamma-aminobutyric acid type A receptor beta2 subunit

Location
Chromosome 5q34


Function

The GABRB2 gene is a member of the GABA-A receptor gene family. Members of this gene family are involved in the neurotransmission of GABA, a major neurotransmitter in the brain (Whiting et al., 1999).

Database Links

GeneCards: GABRB2

NCBI Gene: 2561 

OMIM: 600232

UniProtKB/Swiss-Prot: P47870

Clinical Significance

The following change in this gene was identified in a UDN participant.

Gene GABRB2
Inheritance Pattern Autosomal dominant
Position (hg19) chr5:g.160758063C>T
Transcript NM_021911.2
DNA Change c.904G>A
Protein Change p.Val302Met

Foundations/Support Groups:

Scientific Publications:

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