NDUFA2 Chromosome 5
NADH:ubiquinone oxidoreductase subunit A2
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What This Gene Does
The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Gene Info
Gene Group
NADH:ubiquinone oxidoreductase supernumerary subunits
Locus Type
gene with protein product
Location
5q31.3
Ensembl
ENSG00000131495
Associated Conditions (10)
Mitochondrial complex I deficiency
nuclear type 1
Familial cancer of breast
NDUFA2-related disorder
Gastric cancer
Malignant tumor of esophagus
Leigh syndrome
Inborn genetic diseases
Cystic Leukoencephalopathy
nuclear type 13
Key Variants
RS143857164
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS201963018
Conflicting classifications of pathogenicity
Familial cancer of breast, Familial cancer of breast
Health Risk
RS35672074
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, NDUFA2-related disorder
Health Risk
RS375905956
Conflicting classifications of pathogenicity
Leigh syndrome, Inborn genetic diseases, Leigh syndrome
Health Risk
RS745399748
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS863224084
Conflicting classifications of pathogenicity
Cystic Leukoencephalopathy, Mitochondrial complex I deficiency, nuclear type 13
Health Risk
RS1168752295
Pathogenic
Mitochondrial complex I deficiency, nuclear type 13, Mitochondrial complex I deficiency
Health Risk
RS1757460270
Pathogenic
Mitochondrial complex I deficiency, nuclear type 13, Mitochondrial complex I deficiency
Health Risk
RS757982865
Pathogenic
Cystic Leukoencephalopathy, Mitochondrial complex I deficiency, nuclear type 13
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143857164 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS201963018 | Health Risk | Conflicting classifications of pathogenicity | Familial cancer of breast, Familial cancer of breast |
| RS35672074 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, NDUFA2-related disorder |
| RS375905956 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Inborn genetic diseases, Leigh syndrome |
| RS745399748 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency |
| RS863224084 | Health Risk | Conflicting classifications of pathogenicity | Cystic Leukoencephalopathy, Mitochondrial complex I deficiency, nuclear type 13 |
| RS1168752295 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 13, Mitochondrial complex I deficiency |
| RS1757460270 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 13, Mitochondrial complex I deficiency |
| RS757982865 | Health Risk | Pathogenic | Cystic Leukoencephalopathy, Mitochondrial complex I deficiency, nuclear type 13 |