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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

TAT

Reviewed January 2008

What is the official name of the TAT gene?

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.

What is the normal function of the TAT gene?

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.

How are changes in the TAT gene related to health conditions?

tyrosinemia - caused by mutations in the TAT gene

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.

Where is the TAT gene located?

Cytogenetic Location: 16q22.1

Molecular Location on chromosome 16: base pairs 71,566,850 to 71,577,094

The TAT gene is located on the long (q) arm of chromosome 16 at position 22.1.

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 71,566,850 to base pair 71,577,094 on chromosome 16.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about TAT?

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.

What other names do people use for the TAT gene or gene products?

  • ATTY_HUMAN
  • L-Tyrosine:2-oxoglutarate aminotransferase
  • Tyrosine Transaminase

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding TAT?

amino acid ; base pair ; DNA ; enzyme ; gene ; L-tyrosine ; 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).

References

  • Hühn R, Stoermer H, Klingele B, Bausch E, Fois A, Farnetani M, Di Rocco M, Boué J, Kirk JM, Coleman R, Scherer G. Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II. Hum Genet. 1998 Mar;102(3):305-13. (http://www.ncbi.nlm.nih.gov/pubmed/9544843?dopt=Abstract)
  • Natt E, Kida K, Odievre M, Di Rocco M, Scherer G. Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. Proc Natl Acad Sci U S A. 1992 Oct 1;89(19):9297-301. (http://www.ncbi.nlm.nih.gov/pubmed/1357662?dopt=Abstract)
  • Natt E, Westphal EM, Toth-Fejel SE, Magenis RE, Buist NR, Rettenmeier R, Scherer G. Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1----q22.3 in a patient with tyrosinemia type II. Hum Genet. 1987 Dec;77(4):352-8. (http://www.ncbi.nlm.nih.gov/pubmed/2891604?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6898)

 

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.

 
Reviewed: January 2008
Published: December 16, 2014