AGXT

Chr 2q37.3

alanine--glyoxylate aminotransferase

Aliases:: AGXT1, PH1, AGT, SPT, AGT1
MANE:: ENST00000307503.4

OMIM: 604285 ↗NCBI: 189 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

AGXT · P21549

v62025-08-01

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

Mean pLDDT

98.3/ 100

Very high

392 residues

Confidence breakdown

Very high(≥ 90)99%
Confident(70–90)1%
Low(50–70)1%
Very low(< 50)0%

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
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomal
Peroxisomal disorders
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

+2 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

primary hyperoxaluria type 1
0.86
primary hyperoxaluria
0.73
alanine glyoxylate aminotransferase deficiency
0.49
hereditary disease
0.49
Hyperoxaluria
0.46
nephrocalcinosis
0.37
nephrolithiasis
0.37
nephrotic syndrome
0.35
Abnormality of metabolism/homeostasis
0.27
cardiac arrhythmia
0.27

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

Protein function (UniProt)

Alanine--glyoxylate aminotransferase

Peroxisomal aminotransferase that catalyzes the transamination of glyoxylate to glycine and contributes to the glyoxylate detoxification (PubMed:10960483, PubMed:12777626, PubMed:23229545, PubMed:24055001, PubMed:26149463). Also catalyzes the transamination between L-serine and pyruvate and contributes to gluconeogenesis from the L-serine metabolism (PubMed:10347152)