AtlasGene
SUOX
sulfite oxidase
- HGNC 11460↗(opens in a new tab)
- Ensembl gene ENSG00000139531↗(opens in a new tab)
- NCBI Gene 6821↗(opens in a new tab)
Summary
- Cytogenetic location
- 12q13.2
- Coordinates
- Chromosome 12: 55,997,276–56,005,525 (GRCh38)
- Exons
- 5 exons across 8.3 kb
- Protein
- 545 amino acids
- MANE Select transcript
- ENST00000266971.8NM_001032386.2
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
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Molybdenum Cofactor & Isolated Sulfite Oxidase Deficiency
- Isolated Sulfite Oxidase DeficiencyAutosomal recessive
A condition caused by changes in both copies of SUOX, the gene for sulfite oxidase itself.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
▶Actionability
Diagnosis allows supportive care and informs counselling for future pregnancies.
How SUOX is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.3 kb of the gene's 8.3 kb; 1,638 of those bases code for the protein.
Sequencing SUOX
73
positions in SUOX where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 8.3 kb of SUOX, introns included, not only the 2.3 kb of exons.
ClinVar pathogenic variants (76)
The SUOX variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.
- Pathogenic 53
- Pathogenic/likely pathogenic 8
- Likely pathogenic 15
| Variant | Conditions | ClinVar classification | Review status |
|---|---|---|---|
| NM_001032386.2(SUOX):c.1084G>A (p.Gly362Ser) (opens in a new tab) | isolated sulfite oxidase deficiency | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001032386.2(SUOX):c.1200C>G (p.Tyr400Ter) (opens in a new tab) | isolated sulfite oxidase deficiency | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001032386.2(SUOX):c.119_126del (p.Arg40fs) (opens in a new tab) | isolated sulfite oxidase deficiency | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001032386.2(SUOX):c.228+1G>A (opens in a new tab) | isolated sulfite oxidase deficiency | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001032386.2(SUOX):c.650G>A (p.Arg217Gln) (opens in a new tab) | isolated sulfite oxidase deficiency | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001032386.2(SUOX):c.1096C>T (p.Arg366Cys) (opens in a new tab) | isolated sulfite oxidase deficiency | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001032386.2(SUOX):c.1097G>A (p.Arg366His) (opens in a new tab) | isolated sulfite oxidase deficiency | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001032386.2(SUOX):c.1312_1318del (p.Val438fs) (opens in a new tab) | isolated sulfite oxidase deficiency | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001032386.2(SUOX):c.1376G>A (p.Arg459Gln) (opens in a new tab) | isolated sulfite oxidase deficiency | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001032386.2(SUOX):c.1388C>T (p.Ser463Phe) (opens in a new tab) | isolated sulfite oxidase deficiency | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001032386.2(SUOX):c.51-2A>C (opens in a new tab) | isolated sulfite oxidase deficiency | Likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001032386.2(SUOX):c.520del (p.Asp174fs) (opens in a new tab) | isolated sulfite oxidase deficiency | Likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001032386.2(SUOX):c.1136A>G (p.Lys379Arg) (opens in a new tab) | isolated sulfite oxidase deficiency | Likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001032386.2(SUOX):c.1534G>T (p.Asp512Tyr) (opens in a new tab) | isolated sulfite oxidase deficiency | Likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001032386.2(SUOX):c.37C>T (p.Gln13Ter) (opens in a new tab) | isolated sulfite oxidase deficiency | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001032386.2(SUOX):c.49dup (p.Arg17fs) (opens in a new tab) | isolated sulfite oxidase deficiency | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001032386.2(SUOX):c.66del (p.Ser23fs) (opens in a new tab) | isolated sulfite oxidase deficiency | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001032386.2(SUOX):c.90C>A (p.Cys30Ter) (opens in a new tab) | isolated sulfite oxidase deficiency | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001032386.2(SUOX):c.98del (p.Asn33fs) (opens in a new tab) | isolated sulfite oxidase deficiency | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001032386.2(SUOX):c.115C>T (p.Gln39Ter) (opens in a new tab) | isolated sulfite oxidase deficiency | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001032386.2(SUOX):c.141dup (p.Asp48Ter) (opens in a new tab) | isolated sulfite oxidase deficiency | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001032386.2(SUOX):c.142_145dup (p.Asn49delinsArgTer) (opens in a new tab) | isolated sulfite oxidase deficiency | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001032386.2(SUOX):c.207dup (p.Tyr70fs) (opens in a new tab) | isolated sulfite oxidase deficiency | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001032386.2(SUOX):c.215_222del (p.Asp72fs) (opens in a new tab) | isolated sulfite oxidase deficiency | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001032386.2(SUOX):c.224del (p.Cys75fs) (opens in a new tab) | isolated sulfite oxidase deficiency | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
See all 76 with every other SUOX variant in ClinVar → (opens in a new tab)
Traits linked to SUOX
The Human Phenotype Ontology lists these as features of the rare conditions SUOX can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-18: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.18-8b139e39.
Cite this page
Dante Labs. (n.d.). SUOX gene: sulfite oxidase. Retrieved 19 October 2026, from https://dantelabs.com/genes/suox
Dante Labs. SUOX gene: sulfite oxidase [Internet]. [cited 19 October 2026]. Available from: https://dantelabs.com/genes/suox
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