TAT

Chr 16q22.2

tyrosine aminotransferase

MANE:: ENST00000355962.5

OMIM: 613018 ↗NCBI: 6898 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

TAT · P17735

v62025-08-01

Predicted Aligned Error matrix for TAT — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.8/ 100

Very high

454 residues

Confidence breakdown

Very high(≥ 90)86%
Confident(70–90)4%
Low(50–70)3%
Very low(< 50)8%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratoderma and erythrokeratodermas
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

tyrosinemia type II
0.79
Tyrosinemia type 2
0.70
Intellectual disability
0.46
tyrosinemia
0.37
Palmoplantar hyperkeratosis
0.37
ovarian dysfunction
0.26
hereditary disease
0.19
gestational diabetes
0.15
type 2 diabetes mellitus
0.13
infection
0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Tyrosine aminotransferase

Transaminase involved in tyrosine breakdown. Converts tyrosine to p-hydroxyphenylpyruvate. Can catalyze the reverse reaction, using glutamic acid, with 2-oxoglutarate as cosubstrate (in vitro). Has much lower affinity and transaminase activity towards phenylalanine