GATC

Chr 12q24.31

glutamyl-tRNA amidotransferase subunit C

Aliases:: FLJ37000, 15E1.2
MANE:: ENST00000551765.6

OMIM: 617210 ↗NCBI: 283459 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GATC · O43716

v62025-08-01

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

Mean pLDDT

78.6/ 100

Confident

136 residues

Confidence breakdown

Very high(≥ 90)38%
Confident(70–90)35%
Low(50–70)16%
Very low(< 50)12%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

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

Disease associations (Open Targets)

combined oxidative phosphorylation deficiency 42
0.52
adolescent idiopathic scoliosis
0.11
acquired thrombocytopenia
0.11
Abnormality of the skeletal system
0.10
obesity disorder
0.06
type 2 diabetes mellitus
0.03
mathematical ability
0.02
metabolic dysfunction-associated steatotic liver disease
0.01
infection
0.00
stage 5 chronic kidney disease
0.00

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

Protein function (UniProt)

Glutamyl-tRNA(Gln) amidotransferase subunit C, 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)