AlphaFold predicted structure
NDUFA9 · Q16795
Mean pLDDT
89.6/ 100
Confident
377 residues
Confidence breakdown
- Very high(≥ 90)85%
- Confident(70–90)6%
- Low(50–70)1%
- Very low(< 50)9%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
NDUFA9
Chr 12p13.3NADH:ubiquinone oxidoreductase subunit A9
- Aliases:
- SDR22E1, CI-39k, COQ11
- MANE:
- ENST00000266544.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorder with complex I deficiency
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomalAdult onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
mitochondrial complex I deficiency, nuclear type 26
0.66mitochondrial complex I deficiency
0.62type 2 diabetes mellitus
0.61Parkinson disease
0.58diabetes mellitus
0.58neurodegenerative disease
0.58multiple sclerosis
0.53Leigh syndrome
0.53Alzheimer disease
0.51lysosomal storage disease
0.50
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Required for proper complex I assembly (PubMed:28671271). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone
Diseases associated with NDUFA9
Curated MONDO disease pages that list NDUFA9 among their top associated genes.