GCSH

Chr 16q23.2

glycine cleavage system protein H

MANE:: ENST00000315467.9

OMIM: 238330 ↗NCBI: 2653 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

GCSH · P23434

v62025-08-01

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

Mean pLDDT

85.0/ 100

Confident

173 residues

Confidence breakdown

Very high(≥ 90)71%
Confident(70–90)2%
Low(50–70)19%
Very low(< 50)8%

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
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

glycine encephalopathy
0.72
multiple mitochondrial dysfunctions syndrome 7
0.70
neurodegenerative disease
0.48
infantile glycine encephalopathy
0.37
atypical glycine encephalopathy
0.37
glycine encephalopathy 1
0.37
neonatal glycine encephalopathy
0.37
lysosomal storage disease
0.22
hereditary disease
0.19
prostate adenocarcinoma
0.08

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

Protein function (UniProt)

Glycine cleavage system H protein, mitochondrial

The glycine cleavage system catalyzes the degradation of glycine. The H protein (GCSH) shuttles the methylamine group of glycine from the P protein (GLDC) to the T protein (GCST). Has a pivotal role in the lipoylation of enzymes involved in cellular energetics such as the mitochondrial dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex (DLAT), and the mitochondrial dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex (DLST) (PubMed:36190515)