AASDHPPT
Description
The AASDHPPT gene provides instructions for making an enzyme called 4-aminobutyrate aminotransferase (ABAT). ABAT plays a crucial role in the metabolism of vitamin B6, specifically in the breakdown of the neurotransmitter gamma-aminobutyric acid (GABA). GABA is an important inhibitory neurotransmitter in the brain, and its proper metabolism is essential for normal brain function. The AASDHPPT gene is located on chromosome 15 and is expressed primarily in the brain, particularly in the cerebellum. Mutations in this gene can lead to a deficiency in ABAT activity, resulting in a buildup of GABA and its metabolites, which can lead to a range of neurological disorders.
Associated Diseases
Did you know?
The AASDHPPT gene was first identified in 1995, and its role in GABA metabolism was discovered shortly after.
