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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SUOX
sulfite oxidase
Chromosome 12 Β· 12q13.2
NCBI Gene: 6821Ensembl: ENSG00000139531.14HGNC: HGNC:11460UniProt: P51687
60PubMed Papers
21Diseases
0Drugs
78Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnitrite reductase activitymitochondrionmitochondrial inner membraneisolated sulfite oxidase deficiencyasthmarheumatoid arthritisSulfocysteinuria
✦AI Summary

SUOX (sulfite oxidase) catalyzes the oxidation of sulfite to sulfate, the terminal reaction in oxidative degradation of sulfur-containing amino acids 1. This mitochondrial enzyme contains molybdopterin and heme cofactors and localizes to the mitochondrial matrix and inner membrane [GO annotations]. SUOX functions as part of the sulfide oxidation unit (SOU), playing a critical role in hydrogen sulfide metabolism and mitochondrial energy production through ATP synthesis via oxidative phosphorylation 23. Isolated sulfite oxidase deficiency (ISOD), caused by biallelic SUOX mutations, is a life-threatening autosomal recessive neurological disease with onset typically within the first 72 hours of life 1. Clinical features include seizures (84%), developmental delay (97%), hypotonia/hypertonia, feeding difficulties, and ectopia lentis, with brain abnormalities on imaging in all affected patients 14. Patients with missense mutations show milder symptoms and later disease onset compared to truncating mutations 4. Beyond monogenic disease, SUOX emerges as a prognostic biomarker in malignancies. Low SUOX expression correlates with poor prognosis in intrahepatic cholangiocarcinoma and pancreatic ductal adenocarcinoma 53. Additionally, SUOX variants are associated with susceptibility to gastroesophageal reflux disease and asthma 6, and polycystic ovary syndrome 7, suggesting broader metabolic roles.

Sources cited
1
SUOX catalyzes sulfite oxidation; ISOD is autosomal recessive with neurological impairment; onset in first 72 hours in 57% of cases; seizures, developmental delay, hypotonia/hypertonia are common; brain abnormalities present in all MRI/CT cases
PMID: 28980090
2
SUOX is a key enzyme in the sulfide oxidation unit involved in hydrogen sulfide metabolism and cellular bioenergetics
PMID: 39643979
3
SUOX catalyzes ATP synthesis via oxidative phosphorylation in mitochondria; low SUOX expression associates with poor prognosis in pancreatic ductal adenocarcinoma
PMID: 35896256
4
Patients with biallelic missense SUOX mutations have milder symptoms, later age of onset, and higher incidence of regression than other genotypes
PMID: 36303223
5
Low SUOX expression associates with significantly shorter 5-year survival in intrahepatic cholangiocarcinoma; SUOX is an independent prognostic factor
PMID: 35764144
6
SUOX is a novel shared gene associated with both gastroesophageal reflux disease and asthma susceptibility
PMID: 40932390
7
SUOX variants are located at a genetic locus associated with polycystic ovary syndrome risk
PMID: 24715512
Disease Associationsβ“˜21
isolated sulfite oxidase deficiencyOpen Targets
0.83Strong
asthmaOpen Targets
0.55Moderate
rheumatoid arthritisOpen Targets
0.53Moderate
SulfocysteinuriaOpen Targets
0.52Moderate
type 1 diabetes mellitusOpen Targets
0.51Moderate
genetic disorderOpen Targets
0.49Moderate
childhood onset asthmaOpen Targets
0.48Moderate
hypothyroidismOpen Targets
0.46Moderate
allergic diseaseOpen Targets
0.46Moderate
intelligenceOpen Targets
0.41Moderate
basal cell carcinomaOpen Targets
0.37Weak
atopic eczemaOpen Targets
0.36Weak
adult onset asthmaOpen Targets
0.35Weak
myxedemaOpen Targets
0.35Weak
skin neoplasmOpen Targets
0.35Weak
atopic asthmaOpen Targets
0.35Weak
squamous cell carcinomaOpen Targets
0.32Weak
polycystic ovary syndromeOpen Targets
0.30Weak
VitiligoOpen Targets
0.28Weak
mathematical abilityOpen Targets
0.28Weak
Sulfite oxidase deficiency, isolatedUniProt
Pathogenic Variants78
NM_001032386.2(SUOX):c.1084G>A (p.Gly362Ser)Pathogenic
Sulfite oxidase deficiency|Sulfocysteinuria
β˜…β˜…β˜†β˜†2025β†’ Residue 362
NM_001032386.2(SUOX):c.142_145dup (p.Asn49delinsArgTer)Pathogenic
Sulfite oxidase deficiency|Sulfocysteinuria|SUOX-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 49
NM_001032386.2(SUOX):c.1097G>A (p.Arg366His)Pathogenic
not provided|Sulfite oxidase deficiency|Sulfocysteinuria
β˜…β˜…β˜†β˜†2025β†’ Residue 366
NM_001032386.2(SUOX):c.842_843del (p.Leu281fs)Pathogenic
not provided|Inborn genetic diseases|Sulfocysteinuria|SUOX-related disorder|Sulfite oxidase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 281
NM_001032386.2(SUOX):c.1136A>G (p.Lys379Arg)Likely pathogenic
Sulfite oxidase deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 379
NM_001032386.2(SUOX):c.1534G>T (p.Asp512Tyr)Likely pathogenic
Sulfite oxidase deficiency|Sulfocysteinuria
β˜…β˜…β˜†β˜†2024β†’ Residue 512
NM_001032386.2(SUOX):c.119_126del (p.Arg40fs)Pathogenic
Sulfite oxidase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 40
NM_001032386.2(SUOX):c.1376G>A (p.Arg459Gln)Pathogenic
Sulfite oxidase deficiency|Sulfocysteinuria
β˜…β˜…β˜†β˜†2024β†’ Residue 459
NM_001032386.2(SUOX):c.650G>A (p.Arg217Gln)Pathogenic
Sulfite oxidase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 217
NM_001032386.2(SUOX):c.1312_1318del (p.Val438fs)Pathogenic
Sulfite oxidase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 438
NM_001032386.2(SUOX):c.520del (p.Asp174fs)Likely pathogenic
Sulfite oxidase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 174
NM_001032386.2(SUOX):c.51-2A>CLikely pathogenic
Sulfocysteinuria|Sulfite oxidase deficiency
β˜…β˜…β˜†β˜†2024
NM_001032386.2(SUOX):c.1276C>T (p.Gln426Ter)Pathogenic
SUOX-related disorder|Sulfite oxidase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 426
NM_001032386.2(SUOX):c.423del (p.Val142fs)Pathogenic
Inborn genetic diseases|Sulfite oxidase deficiency
β˜…β˜…β˜†β˜†2023β†’ Residue 142
NM_001032386.2(SUOX):c.1382A>G (p.Asp461Gly)Likely pathogenic
Sulfite oxidase deficiency
β˜…β˜†β˜†β˜†2026β†’ Residue 461
NM_001032386.2(SUOX):c.363dup (p.Pro122fs)Pathogenic
Sulfite oxidase deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 122
NM_001032386.2(SUOX):c.1405_1406insT (p.Thr469fs)Pathogenic
Sulfite oxidase deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 469
NM_001032386.2(SUOX):c.90C>A (p.Cys30Ter)Pathogenic
Sulfite oxidase deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 30
NM_001032386.2(SUOX):c.1375C>T (p.Arg459Trp)Likely pathogenic
Sulfite oxidase deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 459
NM_001032386.2(SUOX):c.1200C>G (p.Tyr400Ter)Pathogenic
Sulfite oxidase deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 400
View on ClinVar β†—
Related Genes
ARSGShared pathway100%SQORProtein interaction100%TSTProtein interaction100%ETHE1Protein interaction99%AOX1Protein interaction98%PAPSS1Protein interaction98%
Tissue Expression6 tissues
Liver
100%
Heart
48%
Ovary
31%
Lung
20%
Bone Marrow
16%
Brain
13%
Gene Interaction Network
Click a node to explore
SUOXARSGSQORTSTETHE1AOX1PAPSS1
PROTEIN STRUCTURE
Preparing viewer…
PDB1MJ4 Β· 1.20 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.13LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.86 [0.67–1.13]
RankingsWhere SUOX stands among ~20K protein-coding genes
  • #7,711of 20,598
    Most Researched60
  • #954of 5,498
    Most Pathogenic Variants78 Β· top quartile
  • #11,660of 17,882
    Most Constrained (LOEUF)1.13
Genes detectedSUOX
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Emerging roles of hydrogen sulfide-metabolizing enzymes in cancer.
PMID: 39643979
Redox Rep Β· 2024
1.00
2
Unveiling the genetic overlap and causal links between gastroesophageal reflux disease and asthma.
PMID: 40932390
Int J Surg Β· 2025
0.90
3
[Analysis of SUOX gene variants and clinical features in a child with Isolated sulfite oxidase deficiency].
PMID: 36709936
Zhonghua Yi Xue Yi Chuan Xue Za Zhi Β· 2023
0.80
4
Isolated sulfite oxidase deficiency.
PMID: 28980090
J Inherit Metab Dis Β· 2018
0.70
5
SUOX and GLUT1 are biomarkers for the prognosis in large duct type intrahepatic cholangiocarcinoma.
PMID: 35764144
Hum Pathol Β· 2022
0.60