MOCS2
Chr 5ARmolybdenum cofactor synthesis 2
Also known as: MCBPE, MOCO1, MOCODB, MOCODB1, MPTS
The MOCS2 protein serves as the catalytic subunit of molybdopterin synthase, which converts precursor Z into molybdopterin by incorporating sulfur atoms to form the molybdenum cofactor essential for molybdoenzyme function. Autosomal recessive mutations cause molybdenum cofactor deficiency type B, a severe neurometabolic disorder resulting from defective molybdenum cofactor biosynthesis that impairs sulfite oxidase and other molybdoenzymes.
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MOCS2 · 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