TAT gene
The TAT gene provides instructions for producing the liver enzyme tyrosine aminotransferase, which is essential for breaking down the amino acid tyrosine.
Normal Function
The TAT gene provides instructions for making a liver enzyme called tyrosine aminotransferase. This enzyme is the first in a series of five enzymes that work to break down the amino acid tyrosine, a protein building block found in many foods. Specifically, tyrosine aminotransferase converts tyrosine into a byproduct called 4-hydroxyphenylpyruvate. This process continues until smaller molecules are produced that are either excreted by the kidneys or used to produce energy or make other substances in the body.
Health Conditions Related to Genetic Changes
Tyrosinemia
At least 22 TAT gene mutations have been found to cause tyrosinemia type II, a condition that often affects the eyes, skin, and mental development.
- Mechanism: Most mutations change single DNA building blocks (base pairs) within the TAT gene, resulting in an enzyme with reduced activity. Other mutations delete all or part of the gene, eliminating enzyme activity entirely.
- Impact: As a result, tyrosine is not properly broken down, leading to elevated tyrosine levels. Some tyrosine is converted into other molecules that may be toxic to cells.
It is currently unclear how the impaired breakdown of tyrosine leads to the specific skin, eye, and intellectual problems that characterize tyrosinemia type II.
Other Names for This Gene
- ATTY_HUMAN
- L-tyrosine:2-oxoglutarate aminotransferase
- tyrosine transaminase