GLUD1

Chr 10q23.2

glutamate dehydrogenase 1

Aliases:: GDH, GDH1, hGDH1
MANE:: ENST00000277865.5

OMIM: 138130 ↗NCBI: 2746 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GLUD1 · P00367

v62025-08-01

Predicted Aligned Error matrix for GLUD1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.3/ 100

Very high

558 residues

Confidence breakdown

Very high(≥ 90)86%
Confident(70–90)3%
Low(50–70)1%
Very low(< 50)10%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital hyperinsulinism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hyperammonaemia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Undiagnosed metabolic disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

hyperinsulinism-hyperammonemia syndrome
0.83
epilepsy
0.37
hyperinsulinemic hypoglycemia, familial, 2
0.37
familial hyperinsulinism
0.34
gout
0.33
neurodegenerative disease
0.28
urolithiasis
0.24
head and neck cancer
0.24
hereditary disease
0.19
monogenic diabetes
0.12

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

Protein function (UniProt)

Glutamate dehydrogenase 1, mitochondrial

Mitochondrial glutamate dehydrogenase that catalyzes the conversion of L-glutamate into alpha-ketoglutarate. Plays a key role in glutamine anaplerosis by producing alpha-ketoglutarate, an important intermediate in the tricarboxylic acid cycle (PubMed:11032875, PubMed:11254391, PubMed:16023112, PubMed:16959573). Plays a role in insulin homeostasis (PubMed:11297618, PubMed:9571255). May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate (By similarity)