MOCS1
Chr 6ARmolybdenum cofactor synthesis 1
Also known as: MIG11, MOCOD, MOCS1A, MOCS1B
The protein catalyzes the conversion of GTP to cyclic pyranopterin monophosphate, the first step in molybdenum cofactor biosynthesis, with isoform MOCS1A performing GTP cyclization and isoform MOCS1B converting the intermediate to cyclic pyranopterin monophosphate. Biallelic mutations cause molybdenum cofactor deficiency type A, inherited in an autosomal recessive pattern. Loss-of-function mutations disrupt this essential cofactor synthesis pathway required for multiple molybdenum-dependent enzymes.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
300 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 23 | 0 | 2 | 0 | 25 |
Likely Pathogenic | 19 | 1 | 0 | 0 | 20 |
VUS | 5 | 97 | 13 | 10 | 125 |
Likely Benign | 0 | 1 | 36 | 81 | 118 |
Benign | 0 | 0 | 1 | 0 | 1 |
Conflicting | — | 2 | |||
| Total | 47 | 99 | 52 | 91 | 291 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MOCS1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools