ETHE1

Chr 19q13.31

ETHE1 persulfide dioxygenase

Aliases:: YF13H12, HSCO
MANE:: ENST00000292147.7

OMIM: 608451 ↗NCBI: 23474 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ETHE1 · O95571

v62025-08-01

Predicted Aligned Error matrix for ETHE1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.9/ 100

Very high

254 residues

Confidence breakdown

Very high(≥ 90)90%
Confident(70–90)2%
Low(50–70)2%
Very low(< 50)7%

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
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Structural basal ganglia disorders
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

ethylmalonic encephalopathy
0.84
Leigh syndrome
0.37
Abnormality of the nervous system
0.27
hereditary disease
0.19
neurodegenerative disease
0.17
neoplasm
0.10
colorectal carcinoma
0.09
autosomal dominant macrothrombocytopenia
0.07
hereditary thrombocytopenia with normal platelets
0.05
thrombocytopenia 4
0.05

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

Protein function (UniProt)

Persulfide dioxygenase ETHE1, mitochondrial

Sulfur dioxygenase that plays an essential role in hydrogen sulfide catabolism in the mitochondrial matrix. Hydrogen sulfide (H(2)S) is first oxidized by SQRDL, giving rise to cysteine persulfide residues. ETHE1 consumes molecular oxygen to catalyze the oxidation of the persulfide, once it has been transferred to a thiophilic acceptor, such as glutathione (R-SSH). Plays an important role in metabolic homeostasis in mitochondria by metabolizing hydrogen sulfide and preventing the accumulation of supraphysiological H(2)S levels that have toxic effects, due to the inhibition of cytochrome c oxidase. First described as a protein that can shuttle between the nucleus and the cytoplasm and suppress p53-induced apoptosis by sequestering the transcription factor RELA/NFKB3 in the cytoplasm and preventing its accumulation in the nucleus (PubMed:12398897)