TAT Gene: Tyrosine Aminotransferase
Genetic and functional insights into the TAT gene, its role in tyrosine metabolism, associated disorders, and clinical significance.
Gene Information Card
| Symbol | TAT |
|---|---|
| Full Name | Tyrosine Aminotransferase |
| Gene Type | Protein-coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 6898 ncbi.nlm.nih.gov/gene/6898 |
| Ensembl ID | ENSG00000103056 |
| UniProt ID | P17735 |
| OMIM ID | 613018 |
| HGNC ID | 11773 |
| Aliases | TAT1, TAT2 |
Description
The TAT gene encodes tyrosine aminotransferase, a mitochondrial enzyme that catalyzes the conversion of tyrosine to 4-hydroxyphenylpyruvate, the first step in tyrosine catabolism. Mutations in TAT cause tyrosinemia type II (Richner-Hanhart syndrome), characterized by elevated tyrosine levels, corneal ulcers, and palmoplantar hyperkeratosis. The gene is primarily expressed in the liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Tyrosinemia type II (Richner-Hanhart syndrome) | Loss-of-function mutations in TAT impair tyrosine transamination, leading to accumulation of tyrosine and its metabolites, causing ocular and cutaneous lesions. | OMIM #276600; ClinVar pathogenic variants |
| Tyrosinemia (general) | Deficiency of tyrosine aminotransferase disrupts tyrosine degradation pathway, resulting in systemic tyrosinemia. | NCBI Gene; UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 28.6 | High |
| Kidney | 12.3 | Medium |
| Small intestine | 3.1 | Low |
| Pancreas | 1.8 | Low |
| Adrenal gland | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 2.4 | Embryonic kidney cells |
| Caco-2 | 1.1 | Colorectal adenocarcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.533G>A (p.Arg178Gln) | Missense | Rare | Loss of enzymatic activity |
| c.892C>T (p.Arg298*) | Nonsense | Rare | Premature truncation, loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein synthesis |
Mutation functional classification
Loss of Function (LOF)
Most TAT mutations are loss-of-function, leading to tyrosinemia type II due to impaired tyrosine catabolism.
Gain of Function (GOF)
No gain-of-function mutations reported in TAT.
Dominant Negative (DN)
No dominant-negative mechanisms described for TAT.
View complete mutation data：
Gene Ontology (GO)
| • Tyrosine transaminase activity | • Pyridoxal phosphate binding |
| • Cytosol | • Mitochondrion |
| • Cellular amino acid metabolic process | • Tyrosine catabolic process |
Pathways
• Tyrosine metabolism (KEGG: hsa00350)
• Phenylalanine and tyrosine biosynthesis (KEGG: hsa00400)
Protein Summary
Tyrosine aminotransferase (TAT) is a 454-amino-acid homodimeric mitochondrial enzyme that uses pyridoxal phosphate as a cofactor. It catalyzes the reversible transamination of tyrosine to 4-hydroxyphenylpyruvate. The protein is highly expressed in liver and kidney, and its deficiency leads to tyrosinemia type II. Structural studies show a large domain with the active site and a small domain involved in dimerization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STAT1 Knockout HEK293 Cell Line | EDJ-KQ188 | Human | 6772 | Details Get a Quote |
| STAT6 Knockout HEK293 Cell Line | EDJ-KQ248 | Human | 6778 | Details Get a Quote |
| STAT2 Knockout HEK293 Cell Line | EDJ-KQ535 | Human | 6773 | Details Get a Quote |
| STAT4 Knockout HEK293 Cell Line | EDJ-KQ536 | Human | 6775 | Details Get a Quote |
| STAT5A Knockout HEK293 Cell Line | EDJ-KQ538 | Human | 6776 | Details Get a Quote |
| STAT5B Knockout HEK293 Cell Line | EDJ-KQ539 | Human | 6777 | Details Get a Quote |
| STAT3 Knockout HEK293 Cell Line | EDJ-KQ903 | Human | 6774 | Details Get a Quote |
| TAT Knockout HEK293 Cell Line | EDJ-KQ2159 | Human | 6898 | Details Get a Quote |
| HTATIP2 Knockout HEK293 Cell Line | EDJ-KQ2516 | Human | 10553 | Details Get a Quote |
| TATDN2 Knockout HEK293 Cell Line | EDJ-KQ6752 | Human | 9797 | Details Get a Quote |
| TATDN3 Knockout HEK293 Cell Line | EDJ-KQ9170 | Human | 128387 | Details Get a Quote |
| TATDN1 Knockout HEK293 Cell Line | EDJ-KQ9942 | Human | 83940 | Details Get a Quote |
| ATAT1 Knockout HEK293 Cell Line | EDJ-KQ12055 | Human | 79969 | Details Get a Quote |
| STATH Knockout HEK293 Cell Line | EDJ-KQ16822 | Human | 6779 | Details Get a Quote |
| STAT4 Knockout HCT 116 Cell Line | EDJ-KQ18021 | Human | 6775 | Details Get a Quote |
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