TAT Chromosome 16
Tyrosine aminotransferase
Upload your DNA to see your personal genotypes for variants in TAT.
What This Gene Does
This nuclear gene encodes a mitochondrial protein tyrosine aminotransferase which is present in the liver and catalyzes the conversion of L-tyrosine into p-hydroxyphenylpyruvate. Mutations in this gene cause tyrosinemia (type II, Richner-Hanhart syndrome), a disorder accompanied by major skin and corneal lesions, with possible cognitive disability. A regulator gene for tyrosine aminotransferase is X-linked. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Transaminases
Locus Type
gene with protein product
Location
16q22.2
Ensembl
ENSG00000198650
Associated Conditions (1)
Tyrosinemia type II
Key Variants
RS141534499
Conflicting classifications of pathogenicity
Tyrosinemia type II, Tyrosinemia type II
Health Risk
RS562235592
Conflicting classifications of pathogenicity
Tyrosinemia type II, Tyrosinemia type II
Health Risk
RS748571289
Conflicting classifications of pathogenicity
Tyrosinemia type II, Tyrosinemia type II
Health Risk
RS759311161
Conflicting classifications of pathogenicity
Tyrosinemia type II, Tyrosinemia type II
Health Risk
RS764951157
Conflicting classifications of pathogenicity
Tyrosinemia type II, Tyrosinemia type II
Health Risk
RS767563000
Conflicting classifications of pathogenicity
Tyrosinemia type II, Tyrosinemia type II
Health Risk
RS886052274
Conflicting classifications of pathogenicity
Tyrosinemia type II, Tyrosinemia type II
Health Risk
RS970559788
Conflicting classifications of pathogenicity
Tyrosinemia type II, Tyrosinemia type II
Health Risk
RS113758103
Likely pathogenic
Tyrosinemia type II, Tyrosinemia type II, Tyrosinemia type II
Health Risk
RS1323639275
Likely pathogenic
Tyrosinemia type II, Tyrosinemia type II
Health Risk
RS1357257156
Likely pathogenic
Tyrosinemia type II, Tyrosinemia type II
Health Risk
RS1412663625
Likely pathogenic
Tyrosinemia type II, Tyrosinemia type II
Health Risk
All Variants (70)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2145232689 | Health Risk | Pathogenic | Tyrosinemia type II, Tyrosinemia type II |
| RS2145236067 | Health Risk | Pathogenic | Tyrosinemia type II, Tyrosinemia type II |
| RS2145236177 | Health Risk | Pathogenic | Tyrosinemia type II, Tyrosinemia type II |
| RS2507659879 | Health Risk | Pathogenic | Tyrosinemia type II, Tyrosinemia type II |
| RS2507661763 | Health Risk | Pathogenic | Tyrosinemia type II, Tyrosinemia type II |
| RS2507664082 | Health Risk | Pathogenic | Tyrosinemia type II, Tyrosinemia type II |
| RS2507666838 | Health Risk | Pathogenic | Tyrosinemia type II, Tyrosinemia type II |
| RS2507669416 | Health Risk | Pathogenic | Tyrosinemia type II, Tyrosinemia type II |
| RS587776512 | Health Risk | Pathogenic | Tyrosinemia type II, Tyrosinemia type II |
| RS761817519 | Health Risk | Pathogenic | Tyrosinemia type II, Tyrosinemia type II |
| RS1005382525 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type II, Tyrosinemia type II |
| RS1316166172 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type II, Tyrosinemia type II |
| RS2044197900 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type II, Tyrosinemia type II |
| RS2145231253 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type II, Tyrosinemia type II |
| RS2145235661 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type II, Tyrosinemia type II |
| RS746077579 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type II, Tyrosinemia type II |
| RS756743947 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type II, Tyrosinemia type II |
| RS757879229 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type II, Tyrosinemia type II |
| RS758306831 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type II, Tyrosinemia type II |
| RS758491525 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type II, Tyrosinemia type II |