GATB

Chr 4q31.3

glutamyl-tRNA amidotransferase subunit B

MANE:: ENST00000263985.11

OMIM: 603645 ↗NCBI: 5188 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GATB · O75879

v62025-08-01

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

Mean pLDDT

85.4/ 100

Confident

557 residues

Confidence breakdown

Very high(≥ 90)67%
Confident(70–90)21%
Low(50–70)2%
Very low(< 50)11%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

combined oxidative phosphorylation deficiency 41
0.54
intelligence
0.44
mathematical ability
0.37
headache disorder
0.35
protozoa infectious disease
0.33
Tinnitus
0.32
gastroesophageal reflux disease
0.32
attention deficit-hyperactivity disorder
0.31
digestive system disorder
0.28
alcohol drinking
0.27

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

Protein function (UniProt)

Glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial

Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln)