GLDC

Chr 9p24.1

glycine decarboxylase

Aliases:: GCSP, NKH
MANE:: ENST00000321612.8

OMIM: 238300 ↗NCBI: 2731 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

GLDC · P23378

v62025-08-01

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

Mean pLDDT

94.1/ 100

Very high

1,020 residues

Confidence breakdown

Very high(≥ 90)92%
Confident(70–90)1%
Low(50–70)0%
Very low(< 50)6%

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
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

glycine encephalopathy
0.84
glycine encephalopathy 1
0.75
hereditary disease
0.52
neurodegenerative disease
0.49
Smith-Magenis syndrome
0.43
Seizure
0.37
atypical glycine encephalopathy
0.37
neonatal glycine encephalopathy
0.37
infantile glycine encephalopathy
0.37
Obesity
0.35

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

Protein function (UniProt)

Glycine dehydrogenase (decarboxylating), mitochondrial

The glycine cleavage system catalyzes the degradation of glycine. The P protein (GLDC) binds the alpha-amino group of glycine through its pyridoxal phosphate cofactor; CO(2) is released and the remaining methylamine moiety is then transferred to the lipoamide cofactor of the H protein (GCSH)