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NDUFS8

Synonyms
CI-23k, CI23KD, MC1DN2, TYKY
External resources
Summary
This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome.

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
2,060
Likely benign
851
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on NDUFS8 gene.

Phenotype class
Patients in 3billion (%)

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