NDUFA12 Chromosome 12
NADH:ubiquinone oxidoreductase subunit A12
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What This Gene Does
This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
Gene Info
Gene Group
NADH:ubiquinone oxidoreductase supernumerary subunits
Locus Type
gene with protein product
Location
12q22
Ensembl
ENSG00000184752
Associated Conditions (4)
Inborn genetic diseases
Mitochondrial complex I deficiency
nuclear type 23
SLC35A2-congenital disorder of glycosylation
Key Variants
RS561604238
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1411237396
Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 23, SLC35A2-congenital disorder of glycosylation
Health Risk
RS1875101118
Likely pathogenic
Health Risk
RS374171638
Likely pathogenic
Health Risk
RS1259705655
Pathogenic
Mitochondrial complex I deficiency, nuclear type 23, Mitochondrial complex I deficiency
Health Risk
RS2136056220
Pathogenic
Mitochondrial complex I deficiency, nuclear type 23, Mitochondrial complex I deficiency
Health Risk
RS2136069811
Pathogenic
Mitochondrial complex I deficiency, nuclear type 23, Mitochondrial complex I deficiency
Health Risk
RS2136075449
Pathogenic
Health Risk
RS387907139
Pathogenic
Mitochondrial complex I deficiency, nuclear type 23, Mitochondrial complex I deficiency
Health Risk
RS747101350
Pathogenic
Mitochondrial complex I deficiency, nuclear type 23, Mitochondrial complex I deficiency
Health Risk
RS748012743
Pathogenic
Health Risk
RS1592704794
Pathogenic/Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 23, Mitochondrial complex I deficiency
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS561604238 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1411237396 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 23, SLC35A2-congenital disorder of glycosylation |
| RS1875101118 | Health Risk | Likely pathogenic | — |
| RS374171638 | Health Risk | Likely pathogenic | — |
| RS1259705655 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 23, Mitochondrial complex I deficiency |
| RS2136056220 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 23, Mitochondrial complex I deficiency |
| RS2136069811 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 23, Mitochondrial complex I deficiency |
| RS2136075449 | Health Risk | Pathogenic | — |
| RS387907139 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 23, Mitochondrial complex I deficiency |
| RS747101350 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 23, Mitochondrial complex I deficiency |
| RS748012743 | Health Risk | Pathogenic | — |
| RS1592704794 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 23, Mitochondrial complex I deficiency |
| RS774252307 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 23, Mitochondrial complex I deficiency |