MTARC2
Chr 1mitochondrial amidoxime reducing component 2
Also known as: MARC2, MOSC2
The MTARC2 protein is an outer mitochondrial membrane enzyme that reduces N-hydroxylated substrates using molybdenum as a cofactor, including toxic nucleotide base analogues and amidoxime prodrugs. This gene has very low constraint against loss-of-function variants (LOEUF 0.994), indicating that complete loss of protein function is generally tolerated. Currently, no established Mendelian disease phenotypes have been definitively linked to MTARC2 mutations in clinical practice.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MTARC2 · 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 →No open access results found
External Resources
Links to major genomics databases and tools