Ansa Zakriya

IRI/10h/3
12/3/19
Citation:
Kniffin, Cassandra L. “GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-3; GABRB3.”
Error 403​, https://omim.org/entry/137192.

Annotation:
This article provides an abundance of information about the GABRB3 gene which

encodes for the GABA subunit A receptor. GABRB3 gene contains 10 exons and spans 250kb; it

is located on 15q which holds genes related to angelman syndrome. The receptor opens the

ligand gated ion channel through which Cl- enters. Zinc is an allosteric inhibitor for this receptor,

causing the shape of the receptor to change so the ligand is unable to bind to it. Decreased

expression of the GABRB3 gene is a possible cause for Autism because less GABA proteins are

produced thus reduces the Cl- intake. Deletions of the GABRB3 genes have been found to be

passed down from generation to generation A study observed that the GABRB3 deficient mice

showed issues in social behavior and overall these mice were a model of ASD. One main known

disorder that is caused by a mutation in this gene is insomnia, which is characterized by having

sleeping issues, and ASD patients tend to have difficulties sleeping.

In total this article was one of the most helpful articles the researcher has received

because it allowed her to make connections between diseases that have autistic symptoms

including Angelman syndrome (AS) and Insomnia. These connections will help her further her

research by being able to find a direction to her topic that will interest her; additionally these

connections will help the researcher learn more about how ASD can be caused by different

things. This source is a valid source because it was updated in 2016 and it was sent to her by her

advisor, who is a neuroscientist.