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Detail About The ABAT Gene

Introduction and Overview

Every gene in the human body is responsible for a certain function. This certain function is highly related to your body, your development, and environmental growth. If you don’t grow up normally, that must be because of genes. The genes are inherited from the parents. 

Similarly, the ABAT gene is a gene present inside the human body and richly influences your growth. Basically, it is a gene that provides specific instructions for making an enzyme, named GABA-Transaminase enzyme. The GABA Transaminase becomes pretty handy to break down a brain chemical when it is not necessarily required. The name of that brain chemical is GABA. 

However, GABA is sometimes helpful also. Your brain cells sometimes need to be slowed down it’s functioning. And GABA helps to do it. This prevents your brain from being overloaded with too many signals. 

Location of ABAT Gene

The ABAT Gene is located on chromosome 16. Its molecular location is the base pairs 8,674,617 to 8,784,575. 

Other Names of ABAT Gene

Similar to other genes, the ABAT gene is also recognized by other few names. If you ever hear any of the following names of the gene, that will be the ABAT Gene:

• (S)-3-Amino-2-Methylpropionate transaminase
• 4-aminobutyrate aminotransferase, mitochondrial precursor.
• 4-aminobutyrate transaminase
• GABA Aminotransferase
• GABA-AT 
• GABA Transferase
• GABAT
• GABA transaminase
• Gamma-Amino-N-Butyrate Transaminase.
• NPD009

All these names refer to the ABAT Gene. 

Health Conditions Related to this Gene

With every gene, a few health conditions are related to them. Similarly, there are two health conditions related to the ABAT gene. These are:

• Gaba-Transaminase Deficiency 
• Succinic Semialdehyde Dehydrogenase Deficiency

Let us briefly discuss these genetic conditions.

Gaba-Transaminase Deficiency 

It is a brain disease that begins in infancy. It is common in newborn babies. And those who have this disorder, have recurrent seizures, i.e. epilepsy. Other conditions caused by it are uncontrolled limb movements, weak muscle tone, exaggerated reflexes, and excessive sleepiness. 

Succinic Semialdehyde Dehydrogenase Deficiency

This case is very rare and an inborn disorder. It is an error of metabolism that is inherited as an autosomal recessive trait. The deficient activity of the SSADH enzyme is the major cause of metabolism disruption of GABA ( Gamma-Aminobutyric Acid).

If at least 10 mutations of the ABAT gene take place inside the human body, it might cause any of the above-mentioned disorders. For further information about these genes, you can simply contact us and get more information about it.