NDUFA6 Chromosome 22
NADH:ubiquinone oxidoreductase subunit A6
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What This Gene Does
This gene encodes a member of the LYR family of proteins that contain a highly conserved tripeptide (LYR) motif near the N-terminus. The encoded protein is an accessory subunit of NADH: ubiquinone oxidorerductase (Complex I), which is the largest enzyme of the mitochondrial membrane respiratory chain. Complex I functions in electron transfer from NADH to the respiratory chain. [provided by RefSeq, Oct 2016]
Gene Info
Gene Group
"LYR motif containing|NADH:ubiquinone oxidoreductase supernumerary subunits"
Locus Type
gene with protein product
Location
22q13.2
Ensembl
ENSG00000184983
Associated Conditions (5)
Mitochondrial complex I deficiency
nuclear type 33
Inborn genetic diseases
Mitochondrial disease
NDUFA6-related disorder
Key Variants
RS11555444
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 33, Inborn genetic diseases
Health Risk
RS370102519
Conflicting classifications of pathogenicity
Health Risk
RS768463498
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS763006208
Likely pathogenic
Mitochondrial disease, Mitochondrial complex I deficiency, nuclear type 33
Health Risk
RS1569463838
Pathogenic
Mitochondrial complex I deficiency, nuclear type 33, Mitochondrial disease
Health Risk
RS750830935
Pathogenic
Mitochondrial disease, Mitochondrial complex I deficiency, nuclear type 33
Health Risk
RS758833609
Pathogenic
Mitochondrial complex I deficiency, nuclear type 33, Mitochondrial disease
Health Risk
RS781099275
Pathogenic
Mitochondrial disease, Mitochondrial complex I deficiency, nuclear type 33
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11555444 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 33, Inborn genetic diseases |
| RS370102519 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS768463498 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS763006208 | Health Risk | Likely pathogenic | Mitochondrial disease, Mitochondrial complex I deficiency, nuclear type 33 |
| RS1569463838 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 33, Mitochondrial disease |
| RS750830935 | Health Risk | Pathogenic | Mitochondrial disease, Mitochondrial complex I deficiency, nuclear type 33 |
| RS758833609 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 33, Mitochondrial disease |
| RS781099275 | Health Risk | Pathogenic | Mitochondrial disease, Mitochondrial complex I deficiency, nuclear type 33 |