Curated summary · agent-written · kb/genes/curated/hgnc_26927.md

All 14 claims checked against the KB draft

FOXRED1 across dismech

FOXRED1 (FAD dependent oxidoreductase domain containing 1) is named by 1 disorder entry.

Normal function

ai-gene-review gives FOXRED1's core molecular functions as flavin adenine dinucleotide binding; and oxidoreductase activity, acting in mitochondrial respiratory chain complex I assembly. The upstream review describes FOXRED1 as a complex I assembly factor, not a subunit of the mature enzyme; its oxidoreductase activity is recorded only at the generic level because no substrate or reaction is known.

Disease record

The one entry naming FOXRED1, Mitochondrial Complex I Deficiency Nuclear Type 19, types it as causative and records the variants as germline. The gene sits on the node FOXRED1 Assembly Chaperone Loss of Function, and nodes naming it conform to the module complex_i_deficiency.

The KB's FOXRED1 nodes and the ai-gene-review core functions share the process mitochondrial respiratory chain complex I assembly by exact GO identifier.

ClinGen

ClinGen classifies FOXRED1 for 2 diseases. The one with no dismech entry is mitochondrial disease, and the dismech entries matched to a ClinGen disease for FOXRED1 that do not type the gene are Leber-like Hereditary Optic Neuropathy, Autosomal Recessive 1; and Leigh Syndrome.

Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.

Normal function · from ai-gene-review (Q96CU9, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Mitochondrial Complex I Deficiency Nuclear Type 19	causative germline partial loss of function	mechanism: FOXRED1 Assembly Chaperone Loss of Function

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
Leigh syndrome MONDO:0009723	AR	Moderate 2019-10-16	Leber-like Hereditary Optic Neuropathy, Autosomal Recessive 1 not named Leigh Syndrome not named
mitochondrial disease MONDO:0044970	AR	Definitive 2023-08-21	no dismech entry

Mechanism modules · computed from kb/

complex_i_deficiency via Mitochondrial Complex I Deficiency Nuclear Type 19