NDUFA11 Chromosome 19
NADH:ubiquinone oxidoreductase subunit A11
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What This Gene Does
This gene encodes a subunit of the membrane-bound mitochondrial complex I. Complex I is composed of numerous subunits and functions as the NADH-ubiquinol reductase of the mitochondrial electron transport chain. Mutations in this gene are associated with severe mitochondrial complex I deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
Gene Info
Gene Group
"NADH:ubiquinone oxidoreductase supernumerary subunits|Tim17 family"
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000174886
Associated Conditions (8)
Mitochondrial complex I deficiency
nuclear type 1
NDUFA11-related disorder
Adrenocortical carcinoma
hereditary
Familial cancer of breast
Clear cell carcinoma of kidney
nuclear type 14
Key Variants
RS138889960
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, NDUFA11-related disorder
Health Risk
RS146562956
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS199842745
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS536499962
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS563822139
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS941748424
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS1057517914
Likely pathogenic
Health Risk
RS1057524865
Likely pathogenic
Health Risk
RS748026968
Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 14, Mitochondrial complex I deficiency
Health Risk
RS1348957889
Pathogenic
Mitochondrial complex I deficiency, nuclear type 14, Mitochondrial complex I deficiency
Health Risk
RS863224079
Pathogenic
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138889960 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, NDUFA11-related disorder |
| RS146562956 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS199842745 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS536499962 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS563822139 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS941748424 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS1057517914 | Health Risk | Likely pathogenic | — |
| RS1057524865 | Health Risk | Likely pathogenic | — |
| RS748026968 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 14, Mitochondrial complex I deficiency |
| RS1348957889 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 14, Mitochondrial complex I deficiency |
| RS863224079 | Health Risk | Pathogenic | — |