NDUFAF6

NADH:ubiquinone oxidoreductase complex assembly factor 6

2 disorders 1 untyped 1 causative 8q22.1 gene with protein product

HGNC:28625 Monarch NCBI Gene 137682 ENSG00000156170 UniProt Q330K2 OMIM 612392

Previous symbols: C8orf38. Aliases: lncREST, MGC40214.

Normal function · from ai-gene-review (Q330K2, 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 17	causative germline loss of function	mechanism: Biallelic NDUFAF6 Variant
Fanconi Renotubular Syndrome	untyped Causative	mechanism: Proximal tubular transport and energy-metabolism defect subtype: FRTS5

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	Definitive 2020-11-23	Leber-like Hereditary Optic Neuropathy, Autosomal Recessive 1 not named Leigh Syndrome not named
mitochondrial disease MONDO:0044970	AR	Definitive 2024-06-20	no dismech entry

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.