FOXRED1

Chr 11AR

FAD dependent oxidoreductase domain containing 1

Also known as: FP634, H17, MC1DN19

NCBI Gene: 55572 ENSG00000110074 UniProt: Q96CU9 OMIM: 613622

FOXRED1 encodes a FAD-dependent oxidoreductase that serves as a chaperone protein required for the assembly of mitochondrial complex I (NADH dehydrogenase), particularly during mid-late assembly stages. Mutations cause mitochondrial complex I deficiency with autosomal recessive inheritance, typically presenting in infancy or early childhood with neurological symptoms, developmental delays, and multi-organ involvement. The gene shows extremely low constraint against loss-of-function variants (pLI near zero), consistent with its recessive disease mechanism.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein that contains a FAD-dependent oxidoreductase domain. The encoded protein is localized to the mitochondria and may function as a chaperone protein required for the function of mitochondrial complex I. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mitochondrial complex I deficiency, nuclear type 19MIM #618241

Clinical highlights

Gene-disease validity (ClinGen)

Leigh syndrome · ARModerateconsider for supplementary testing2 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.32

LOEUF

LOF

Mechanism· G2P

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GeneReview available — FOXRED1