NDUFB11 Chromosome X
NADH:ubiquinone oxidoreductase subunit B11
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What This Gene Does
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. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
NADH:ubiquinone oxidoreductase supernumerary subunits
Locus Type
gene with protein product
Location
Xp11.3
Ensembl
ENSG00000147123
Associated Conditions (9)
Inborn genetic diseases
Mitochondrial complex I deficiency
nuclear type 30
Linear skin defects with multiple congenital anomalies 3
NDUFB11-related disorders
Neurodevelopmental disorder
Histiocytoid cardiomyopathy
Linear skin defects with multiple congenital anomalies 1
nuclear type 1
Key Variants
RS150506634
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1556760660
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 30, Mitochondrial complex I deficiency
Health Risk
RS199837826
Conflicting classifications of pathogenicity
Health Risk
RS202002020
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1556760603
Likely pathogenic
Linear skin defects with multiple congenital anomalies 3, NDUFB11-related disorders, Linear skin defects with multiple congenital anomalies 3
Health Risk
RS1556760664
Likely pathogenic
Health Risk
RS2147053098
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2520209863
Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 30, Mitochondrial complex I deficiency
Health Risk
RS2520217968
Likely pathogenic
Health Risk
RS786205225
Pathogenic
Linear skin defects with multiple congenital anomalies 3, Histiocytoid cardiomyopathy, Linear skin defects with multiple congenital anomalies 1
Health Risk
RS876657384
Pathogenic
Linear skin defects with multiple congenital anomalies 3, Linear skin defects with multiple congenital anomalies 3
Health Risk
RS1057519073
Pathogenic/Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 30, Linear skin defects with multiple congenital anomalies 3
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150506634 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1556760660 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 30, Mitochondrial complex I deficiency |
| RS199837826 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202002020 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1556760603 | Health Risk | Likely pathogenic | Linear skin defects with multiple congenital anomalies 3, NDUFB11-related disorders, Linear skin defects with multiple congenital anomalies 3 |
| RS1556760664 | Health Risk | Likely pathogenic | — |
| RS2147053098 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2520209863 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 30, Mitochondrial complex I deficiency |
| RS2520217968 | Health Risk | Likely pathogenic | — |
| RS786205225 | Health Risk | Pathogenic | Linear skin defects with multiple congenital anomalies 3, Histiocytoid cardiomyopathy, Linear skin defects with multiple congenital anomalies 1 |
| RS876657384 | Health Risk | Pathogenic | Linear skin defects with multiple congenital anomalies 3, Linear skin defects with multiple congenital anomalies 3 |
| RS1057519073 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 30, Linear skin defects with multiple congenital anomalies 3 |
| RS2520209894 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 30, Linear skin defects with multiple congenital anomalies 3 |