SQOR (Sulfide Quinone Oxidoreductase) Gene
Key enzyme in hydrogen sulfide metabolism and mitochondrial function
Gene Information Card
| Symbol | SQOR |
|---|---|
| Full Name | Sulfide Quinone Oxidoreductase |
| Gene Type | Protein coding |
| Chromosomal Location | 15q15.1 |
| NCBI Gene ID | 58472 ncbi.nlm.nih.gov/gene/58472 |
| Ensembl ID | ENSG00000137869 |
| UniProt ID | Q9Y6N5 |
| OMIM ID | 617199 |
| HGNC ID | 20383 |
| Aliases | SQRDL, SQR, CGI-44 |
Description
The SQOR gene encodes sulfide quinone oxidoreductase, a mitochondrial flavoprotein that catalyzes the first step in the hydrogen sulfide (H2S) oxidation pathway. It oxidizes H2S to persulfide, transferring electrons to coenzyme Q, thereby detoxifying H2S and contributing to mitochondrial electron transport and cellular redox balance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ethylmalonic encephalopathy | Loss-of-function mutations in SQOR impair H2S detoxification, leading to toxic accumulation and mitochondrial dysfunction. | PMID: 27545680; OMIM #617199 |
| Sulfide toxicity (general) | Deficient SQOR activity reduces H2S clearance, causing cellular hypoxia and metabolic acidosis. | PMID: 24413062 |
| Mitochondrial respiratory chain disorders | SQOR dysfunction disrupts electron transfer to coenzyme Q, affecting ATP production. | PMID: 25274724 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 7.5 | Medium |
| Brain | 4.2 | Low |
| Lung | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.5 | Hepatocyte model |
| HEK293 | 8.2 | Embryonic kidney |
| SH-SY5Y | 2.9 | Neuroblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely null |
| c.325C>T (p.Arg109Trp) | Missense | <0.01% | Reduced enzyme activity |
| c.682G>A (p.Gly228Arg) | Missense | <0.01% | Impaired substrate binding |
Mutation functional classification
Loss of Function (LOF)
Most reported SQOR mutations are loss-of-function, reducing H2S oxidation capacity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • oxidoreductase activity (GO:0016491) |
| • hydrolase activity (GO:0016787) | • ubiquinone biosynthetic process (GO:0006744) |
| • hydrogen sulfide metabolic process (GO:0044550) |
Pathways
• Hydrogen sulfide oxidation (Reactome: R-HSA-1614558)
• Mitochondrial electron transport
• ubiquinol to cytochrome c (Reactome: R-HSA-611105)
Protein Summary
Sulfide quinone oxidoreductase (SQOR) is a 50 kDa mitochondrial inner membrane protein that catalyzes the oxidation of hydrogen sulfide to persulfide, using coenzyme Q as electron acceptor. It is essential for H2S detoxification and contributes to mitochondrial respiration. The enzyme is highly expressed in liver and kidney, tissues with high metabolic demand.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SQOR Knockout HCT 116 Cell Line | EDJ-KQ18159 | Human | 58472 | Details Get a Quote |
| SQOR Knockout HEK293 Cell Line | EDJ-KQ51595 | Human | 58472 | Details Get a Quote |
| SQOR Knockout HeLa Cell Line | EDJ-KQ56934 | Human | 58472 | Details Get a Quote |
| SQOR Knockout A-549 Cell Line | EDJ-KQ65440 | Human | 58472 | Details Get a Quote |
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