Home > Gene Browser > NDUFAF4

NDUFAF4

Synonyms
C6orf66, HRPAP20, HSPC125, MC1DN15, My013, bA22L21.1
External resources
Summary
NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
241
Likely benign
2,530
Benign
368

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on NDUFAF4 gene.

Phenotype class
Patients in 3billion (%)

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