NDUFA8 Chromosome 9
NADH:ubiquinone oxidoreductase subunit A8
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What This Gene Does
The protein encoded by this gene belongs to the complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
NADH:ubiquinone oxidoreductase supernumerary subunits
Locus Type
gene with protein product
Location
9q33.2
Ensembl
ENSG00000119421
Associated Conditions (2)
Mitochondrial complex I deficiency
nuclear type 37
Key Variants
RS760549929
Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 37, Mitochondrial complex I deficiency
Health Risk
RS1319414797
Pathogenic
Mitochondrial complex I deficiency, nuclear type 37, Mitochondrial complex I deficiency
Health Risk
RS767864225
Pathogenic
Mitochondrial complex I deficiency, nuclear type 37, Mitochondrial complex I deficiency
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS760549929 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 37, Mitochondrial complex I deficiency |
| RS1319414797 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 37, Mitochondrial complex I deficiency |
| RS767864225 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 37, Mitochondrial complex I deficiency |