MOCS3
Molybdenum Cofactor Synthesis 3
Gene Information Card
| Symbol | MOCS3 |
|---|---|
| Full Name | Molybdenum Cofactor Synthesis 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.13 |
| NCBI Gene ID | 27304 ncbi.nlm.nih.gov/gene/27304 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | O95396 |
| OMIM ID | 609277 |
| HGNC ID | 17190 |
| Aliases | MOCS3, MOCS3A, MOCS3B, MPT2, MOCS3A/B |
Description
The MOCS3 gene encodes a protein involved in the biosynthesis of molybdenum cofactor (Moco), an essential cofactor for several enzymes including sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase. MOCS3 functions as a sulfurtransferase that activates the C-terminal glycine of MOCS2A to form a thiocarboxylate intermediate, a critical step in Moco synthesis. Mutations in MOCS3 are associated with molybdenum cofactor deficiency, a severe neurological disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Molybdenum cofactor deficiency | Loss-of-function mutations impair Moco biosynthesis, leading to accumulation of toxic sulfite and xanthine | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Brain | 6.1 | Low |
| Heart | 5.4 | Low |
| Testis | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HepG2 | 9.8 | Moderate expression |
| K562 | 7.5 | Low expression |
| A549 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | Rare | Loss of function; associated with molybdenum cofactor deficiency |
| c.200G>A (p.Gly67Asp) | Missense | Rare | Likely loss of function; reduced protein stability |
| c.350T>C (p.Leu117Pro) | Missense | Rare | Impaired sulfurtransferase activity |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the sulfurtransferase domain or cause premature truncation lead to loss of Moco synthesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • Mo-molybdopterin cofactor biosynthetic process (GO:0006777) | • sulfurtransferase activity (GO:0016783) |
| • cytoplasm (GO:0005737) | • cytosol (GO:0005829) |
Pathways
• Molybdenum cofactor biosynthesis (Reactome: R-HSA-947581)
• Sulfur amino acid metabolism (Reactome: R-HSA-1614558)
Protein Summary
MOCS3 is a 461-amino acid protein with a molecular weight of approximately 51 kDa. It contains an N-terminal MOCS3A domain and a C-terminal MOCS3B domain. The protein acts as a sulfurtransferase, transferring sulfur from cysteine to the C-terminal glycine of MOCS2A, forming a thiocarboxylate intermediate essential for molybdopterin synthesis. MOCS3 is localized in the cytoplasm and is ubiquitously expressed, with highest levels in liver and kidney.
Related Services
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|---|---|---|---|---|
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