|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “tyrosine aminotransferase.”
TAT is the gene's official symbol. The TAT gene is also known by other names, listed below.
The TAT gene provides instructions for making a liver enzyme called tyrosine aminotransferase. This enzyme helps break down the amino acid tyrosine, a protein building block found in many foods. Tyrosine aminotransferase is the first in a series of five enzymes that converts tyrosine to smaller molecules, which are excreted by the kidneys or used in reactions that produce energy.
Researchers have identified more than 10 TAT mutations that cause type II tyrosinemia. Almost all of these mutations change a single DNA building block (base pair) within the TAT gene. Research studies suggest that the altered TAT gene produces a tyrosine aminotransferase enzyme with sharply reduced activity. Other mutations delete all or part of the TAT gene, eliminating enzyme activity. As a result of these mutations, tyrosine is not processed efficiently, and levels of tyrosine increase in the blood and urine. It remains unclear how elevated tyrosine levels lead to the skin and eye abnormalities that characterize type II tyrosinemia.
Cytogenetic Location: 16q22.1
Molecular Location on chromosome 16: base pairs 71,600,753 to 71,610,997
The TAT gene is located on the long (q) arm of chromosome 16 at position 22.1.
More precisely, the TAT gene is located from base pair 71,600,753 to base pair 71,610,997 on chromosome 16.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about TAT helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
amino acid ; base pair ; DNA ; enzyme ; gene ; protein ; tyrosine
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.