OAT : ornithine aminotransferase

The OAT Gene: Unlocking the Secrets of Ammonia Metabolism and Protein Synthesis

Description:

The OAT gene plays a pivotal role in the body‘s metabolism and protein synthesis. It encodes the enzyme ornithine aminotransferase (OAT), which resides in the mitochondria of cells and facilitates the breakdown of ornithine. Ornithine is a key component of the urea cycle, a process that converts excess ammonia into urea for excretion.

Associated Diseases:

Mutations in the OAT gene can lead to a rare inherited disorder called ornithine transcarbamylase (OTC) deficiency. OTC deficiency disrupts the urea cycle, resulting in a buildup of ammonia in the blood. Severe ammonia buildup can cause neurological damage and even coma if left untreated.

Did you Know ?

Ornithine aminotransferase activity is elevated in individuals with hyperammonemia, a condition characterized by abnormally high levels of ammonia in the blood.