GSR

Chr 8p12

glutathione-disulfide reductase

Aliases:: GRase
MANE:: ENST00000221130.11

OMIM: 138300 ↗NCBI: 2936 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GSR · P00390

v62025-08-01

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

Mean pLDDT

91.6/ 100

Very high

522 residues

Confidence breakdown

Very high(≥ 90)88%
Confident(70–90)0%
Low(50–70)0%
Very low(< 50)11%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Rare anaemia
BIALLELIC, autosomal or pseudoautosomal
Cytopenias and congenital anaemias
Unknown

Disease associations (Open Targets)

hemolytic anemia due to glutathione reductase deficiency
0.70
glioblastoma
0.56
plasma cell myeloma
0.54
Hodgkins lymphoma
0.53
non-Hodgkin lymphoma
0.51
neurodegenerative disease
0.49
glioma
0.47
medulloblastoma
0.46
astrocytoma (excluding glioblastoma)
0.46
malignant glioma
0.45

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

Protein function (UniProt)

Glutathione reductase, mitochondrial

Catalyzes the reduction of glutathione disulfide (GSSG) to reduced glutathione (GSH). Constitutes the major mechanism to maintain a high GSH:GSSG ratio in the cytosol

Curated MONDO disease pages that list GSR among their top associated genes.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with GSR