SUOX Gene - Sulfite Oxidase
Genetic and functional insights into SUOX, encoding sulfite oxidase, a mitochondrial enzyme critical for sulfur amino acid metabolism.
Gene Information Card
| Symbol | SUOX |
|---|---|
| Full Name | Sulfite Oxidase |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.2 |
| NCBI Gene ID | 6821 ncbi.nlm.nih.gov/gene/6821 |
| Ensembl ID | ENSG00000139531 |
| UniProt ID | P51687 |
| OMIM ID | 606887 |
| HGNC ID | 11460 |
| Aliases | SUOX, sulfite oxidase, mitochondrial |
Description
The SUOX gene encodes sulfite oxidase, a mitochondrial enzyme that catalyzes the oxidation of sulfite to sulfate, the terminal step in the degradation of sulfur-containing amino acids (cysteine and methionine). This enzyme requires a molybdenum cofactor (Moco) for activity. Deficiency of sulfite oxidase leads to severe neurological dysfunction, often presenting in infancy with seizures, dislocated lenses, and progressive neurodegeneration. The gene is located on chromosome 12q13.2 and is expressed in multiple tissues, with highest levels in liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Isolated sulfite oxidase deficiency | Loss-of-function mutations in SUOX impair sulfite oxidation, leading to accumulation of toxic sulfite and S-sulfocysteine, causing severe neurological damage. | ClinVar, OMIM #272300 |
| Molybdenum cofactor deficiency (complementation group B) | Although primarily caused by mutations in MOCS1, MOCS2, or GPHN, SUOX deficiency can mimic this disorder; SUOX mutations cause isolated sulfite oxidase deficiency. | OMIM #252150, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 28.5 | High |
| Kidney | 22.3 | High |
| Heart | 10.1 | Medium |
| Brain | 5.2 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 30.1 | Hepatocellular carcinoma cell line |
| HEK 293 | 15.4 | Embryonic kidney cells |
| SH-SY5Y | 4.7 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Pro34Leu) | Missense | Rare | Loss of function; reduced enzyme activity |
| c.257G>A (p.Arg86Gln) | Missense | Rare | Loss of function; impaired Moco binding |
| c.1031G>A (p.Arg344Gln) | Missense | Rare | Loss of function; structural instability |
Mutation functional classification
Loss of Function (LOF)
Most SUOX mutations are loss-of-function, leading to reduced or absent sulfite oxidase activity and causing isolated sulfite oxidase deficiency.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SUOX.
Dominant Negative (DN)
No dominant-negative effects have been described; the disorder is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • sulfite oxidase activity (GO:0008481) | • mitochondrion (GO:0005739) |
| • molybdenum ion binding (GO:0051537) | • heme binding (GO:0020037) |
| • superoxide metabolic process (GO:0006801) |
Pathways
• Sulfur metabolism (Reactome: R-HSA-1614558)
• Molybdenum cofactor biosynthesis (Reactome: R-HSA-947581)
Protein Summary
Sulfite oxidase (UniProt P51687) is a mitochondrial homodimeric enzyme of approximately 55 kDa per subunit. Each subunit contains a molybdenum cofactor (Moco) domain and a heme domain. The enzyme catalyzes the oxidation of sulfite to sulfate, using cytochrome c as an electron acceptor. This reaction is essential for detoxifying sulfite derived from the catabolism of sulfur-containing amino acids. Defects in SUOX cause isolated sulfite oxidase deficiency, a severe autosomal recessive disorder characterized by early-onset seizures, progressive encephalopathy, and lens dislocation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SUOX Knockout HEK293 Cell Line | EDJ-KQ14786 | Human | 6821 | Details Get a Quote |
| SUOX Knockout A-549 Cell Line | EDJ-KQ46425 | Human | 6821 | Details Get a Quote |
| SUOX Knockout HCT 116 Cell Line | EDJ-KQ46426 | Human | 6821 | Details Get a Quote |
| SUOX Knockout HeLa Cell Line | EDJ-KQ46427 | Human | 6821 | Details Get a Quote |
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