MOCS2 Chromosome 5
Molybdenum cofactor synthesis 2
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What This Gene Does
Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. MoCo is synthesized from precursor Z by the heterodimeric enzyme molybdopterin synthase. The large and small subunits of molybdopterin synthase are both encoded from this gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. They are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits. [provided by RefSeq, Jul 2008]
Associated Conditions (7)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Inborn genetic diseases
Malignant tumor of urinary bladder
MOCS2-related disorder
Combined molybdoflavoprotein enzyme deficiency
Abnormality of metabolism/homeostasis
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Key Variants
RS140563222
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Health Risk
RS146074751
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Health Risk
RS1554028127
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Health Risk
RS201182814
Conflicting classifications of pathogenicity
Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Inborn genetic diseases
Health Risk
RS2112081965
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Health Risk
RS2233217
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Malignant tumor of urinary bladder, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Health Risk
RS2233218
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Health Risk
RS373522800
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Health Risk
RS545270303
Conflicting classifications of pathogenicity
Health Risk
RS572637154
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Health Risk
RS746626353
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Health Risk
RS749876758
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (63)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140563222 | Health Risk | Conflicting classifications of pathogenicity | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS146074751 | Health Risk | Conflicting classifications of pathogenicity | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS1554028127 | Health Risk | Conflicting classifications of pathogenicity | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS201182814 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Inborn genetic diseases |
| RS2112081965 | Health Risk | Conflicting classifications of pathogenicity | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS2233217 | Health Risk | Conflicting classifications of pathogenicity | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Malignant tumor of urinary bladder, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS2233218 | Health Risk | Conflicting classifications of pathogenicity | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS373522800 | Health Risk | Conflicting classifications of pathogenicity | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS545270303 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS572637154 | Health Risk | Conflicting classifications of pathogenicity | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS746626353 | Health Risk | Conflicting classifications of pathogenicity | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS749876758 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS757067036 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS773035025 | Health Risk | Conflicting classifications of pathogenicity | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS777565219 | Health Risk | Conflicting classifications of pathogenicity | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS780085174 | Health Risk | Conflicting classifications of pathogenicity | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, MOCS2-related disorder, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS780363320 | Health Risk | Conflicting classifications of pathogenicity | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS914249018 | Health Risk | Conflicting classifications of pathogenicity | Combined molybdoflavoprotein enzyme deficiency, Combined molybdoflavoprotein enzyme deficiency |
| RS929423104 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1554028123 | Health Risk | Likely pathogenic | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS1740933642 | Health Risk | Likely pathogenic | Combined molybdoflavoprotein enzyme deficiency, Combined molybdoflavoprotein enzyme deficiency |
| RS1741117263 | Health Risk | Likely pathogenic | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS2478613193 | Health Risk | Likely pathogenic | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS2478617582 | Health Risk | Likely pathogenic | — |
| RS2478617586 | Health Risk | Likely pathogenic | — |
| RS2478623115 | Health Risk | Likely pathogenic | — |
| RS397518417 | Health Risk | Likely pathogenic | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS398122797 | Health Risk | Likely pathogenic | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Abnormality of metabolism/homeostasis, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS554491390 | Health Risk | Likely pathogenic | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS121908605 | Health Risk | Pathogenic | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS121908606 | Health Risk | Pathogenic | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS121908607 | Health Risk | Pathogenic | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS121908608 | Health Risk | Pathogenic | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS1235653211 | Health Risk | Pathogenic | — |
| RS1273139451 | Health Risk | Pathogenic | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS1328493860 | Health Risk | Pathogenic | — |
| RS1561179103 | Health Risk | Pathogenic | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS1740904060 | Health Risk | Pathogenic | Combined molybdoflavoprotein enzyme deficiency, Combined molybdoflavoprotein enzyme deficiency |
| RS1740929756 | Health Risk | Pathogenic | — |
| RS2112084395 | Health Risk | Pathogenic | — |
| RS2112090886 | Health Risk | Pathogenic | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS2478595358 | Health Risk | Pathogenic | — |
| RS2478598205 | Health Risk | Pathogenic | — |
| RS2478601175 | Health Risk | Pathogenic | — |
| RS2478601399 | Health Risk | Pathogenic | — |
| RS2478601574 | Health Risk | Pathogenic | — |
| RS2478601638 | Health Risk | Pathogenic | — |
| RS2478613115 | Health Risk | Pathogenic | — |
| RS2478623197 | Health Risk | Pathogenic | — |
| RS398122798 | Health Risk | Pathogenic | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |