MTARC1

Chr 1

mitochondrial amidoxime reducing component 1

Also known as: MARC1, MOSC1

NCBI Gene: 64757 ENSG00000186205 UniProt: Q5VT66

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).

ResearchSummary from RefSeq, UniProt

Enables molybdenum ion binding activity; molybdopterin cofactor binding activity; and oxidoreductase activity, acting on other nitrogenous compounds as donors. Contributes to nitrite reductase (NO-forming) activity. Involved in cellular detoxification of nitrogen compound; nitrate metabolic process; and nitric oxide biosynthetic process. Located in mitochondrion. Part of nitric-oxide synthase complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.27

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429