GATM

Chr 15q21.1

glycine amidinotransferase

Aliases:: AGAT
MANE:: ENST00000396659.8

OMIM: 602360 ↗NCBI: 2628 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

GATM · P50440

v62025-08-01

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

Mean pLDDT

89.6/ 100

Confident

423 residues

Confidence breakdown

Very high(≥ 90)84%
Confident(70–90)1%
Low(50–70)1%
Very low(< 50)13%

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
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulointerstitial kidney disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

AGAT deficiency
0.81
Arginine:glycine amidinotransferase deficiency
0.78
Fanconi renotubular syndrome 1
0.76
chronic kidney disease
0.39
primary Fanconi syndrome
0.38
Abnormality of the skeletal system
0.36
neurodegenerative disease
0.33
kidney failure
0.33
neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
0.26
autoimmune disorder of central nervous system
0.24

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

Protein function (UniProt)

Glycine amidinotransferase, mitochondrial

Transamidinase that catalyzes the transfer of the amidino group of L-arginine onto the amino moiety of acceptor metabolites such as glycine, beta-alanine, gamma-aminobutyric acid (GABA) and taurine yielding the corresponding guanidine derivatives (PubMed:16820567, PubMed:27233232, PubMed:36543883, PubMed:3800397). Catalyzes the rate-limiting step of creatine biosynthesis, namely the transfer of the amidino group from L-arginine to glycine to generate guanidinoacetate, which is then methylated by GAMT to form creatine. Provides creatine as a source for ATP generation in tissues with high energy demands, in particular skeletal muscle, heart and brain (Probable) (PubMed:27233232, PubMed:36543883, PubMed:3800397, PubMed:9266688)