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NDUFB11

Synonyms
CI-ESSS, ESSS, MC1DN30, NP17.3, Np15, P17.3
External resources
Summary
The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to ubiquinone. Mutations in the human gene are associated with linear skin defects with multiple congenital anomalies 3 and mitochondrial complex I deficiency.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
3,261
Likely benign
452
Benign
114

Patient Phenotypes

No patients carry pathogenic or likely pathogenic variants on NDUFB11 gene.

Phenotype class
Patients in 3billion (%)

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