SQOR

Chr 15q21.1

sulfide quinone oxidoreductase

Aliases:: CGI-44, SQR
MANE:: ENST00000260324.12

OMIM: 617658 ↗NCBI: 58472 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SQOR · Q9Y6N5

v62025-08-01

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

Mean pLDDT

93.0/ 100

Very high

450 residues

Confidence breakdown

Very high(≥ 90)90%
Confident(70–90)1%
Low(50–70)1%
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)

Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

sulfide quinone oxidoreductase deficiency
0.67
Leigh syndrome
0.38
alcohol drinking
0.22
urolithiasis
0.22
type 2 diabetes mellitus
0.20
Abnormality of the skeletal system
0.17
obesity disorder
0.17
hair anomaly
0.16
retinal degeneration
0.14
central nervous system cancer
0.14

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

Protein function (UniProt)

Sulfide:quinone oxidoreductase, mitochondrial

Catalyzes the oxidation of hydrogen sulfide with the help of a quinone, such as ubiquinone-10, giving rise to thiosulfate and ultimately to sulfane (molecular sulfur) atoms. Requires an additional electron acceptor; can use sulfite, sulfide or cyanide (in vitro) (PubMed:22852582). It is believed the in vivo electron acceptor is glutathione (PubMed:25225291, PubMed:29715001)