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Gene Symbol |
SUOX |
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Aliases |
- |
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Entrez Gene ID |
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Gene Name |
Sulfite oxidase |
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Chromosomal Location |
12q13.2 |
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HGNC ID |
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Summary |
Sulfite oxidase is a homodimeric protein localized to the intermembrane space of mitochondria. Each subunit contains a heme domain and a molybdopterin-binding domain. The enzyme catalyzes the oxidation of sulfite to sulfate, the final reaction in the oxidative degradation of the sulfur amino acids cysteine and methionine. Sulfite oxidase deficiency results in neurological abnormalities which are often fatal at an early age. Alternative splicing results in multiple transcript variants encoding identical proteins. [provided by RefSeq, Jul 2008]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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| Protein Information |
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Protein Name |
Sulfite oxidase, mitochondrial |
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Function |
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UniProt |
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PDB |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000386857 |
P63267 |
P63267 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Digestive System Diseases |
| Colitis |
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| Crohn Disease |
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| Endocrine System Diseases |
| Diabetes Mellitus |
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| PCOS |
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| Immune System Diseases |
| Juvenile arthritis |
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| Lupus Erythematosus |
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| Rheumatoid Arthritis |
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| Still Disease |
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| Common Variable Immunodeficiency |
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| Autoimmune Diseases |
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| Musculoskeletal Diseases |
| Spondylitis |
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| Nervous System Diseases |
| Encephalopathies |
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| Nutritional and Metabolic Diseases |
| Sulfite oxidase deficiency |
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| Celiac Disease |
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| Sulfocysteinuria |
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| Psychiatric/Brain disorders |
| Intellectual Disability |
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| Skin and Connective Tissue Diseases |
| Psoriasis |
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References |
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| PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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LHCGR, THADA, DENND1A, FSHR, c9orf3, YAP1, HMGA2, TOX3, INSR, SUMO1P1 |
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rs705702 |
Rotterdam criteria |
Direct
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703 Dutch PCOS patients and 2164 Dutch controls |
This study identifies 12 genetic variants mapping to the Chinese PCOS loci similar effect size and identical direction in PCOS patients from Northern European ancestry, indicating a common genetic risk profile for PCOS across populations |
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