MTARC1
Chr 1mitochondrial amidoxime reducing component 1
Also known as: MARC1, MOSC1
The protein catalyzes the reduction of N-oxygenated molecules in mitochondria, functioning as a counterpart to cytochrome P450 in metabolic cycles and playing a role in prodrug conversion and nitric oxide regulation. Mutations cause autosomal recessive spastic paraplegia and developmental delay. This gene shows minimal constraint against loss-of-function variants (low pLI score).
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
MTARC1 · 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
External Resources
Links to major genomics databases and tools