Identity
HGNC
LOCATION
12p13.32
LOCUSID
ALIAS
CC6,CI-39k,CI39k,COQ11,MC1DN26,NDUFS2L,SDR22E1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4704
MIM: 603834
HGNC: 7693
Ensembl: ENSG00000139180
Variants:
dbSNP: 4704
ClinVar: 4704
TCGA: ENSG00000139180
COSMIC: NDUFA9
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000139180 | ENST00000266544 | Q16795 |
| ENSG00000139180 | ENST00000535050 | F5GY40 |
| ENSG00000139180 | ENST00000540688 | F5H0J3 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36939934 | 2023 | Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome. | 4 |
| 36939934 | 2023 | Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome. | 4 |
| 23223238 | 2013 | Gene knockout using transcription activator-like effector nucleases (TALENs) reveals that human NDUFA9 protein is essential for stabilizing the junction between membrane and matrix arms of complex I. | 32 |
| 23223238 | 2013 | Gene knockout using transcription activator-like effector nucleases (TALENs) reveals that human NDUFA9 protein is essential for stabilizing the junction between membrane and matrix arms of complex I. | 32 |
| 22114105 | 2012 | Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. | 22 |
| 22114105 | 2012 | Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. | 22 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 18977241 | 2008 | Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey. | 28 |
| 19064571 | 2008 | Polymorphisms in mitochondrial genes and prostate cancer risk. | 22 |
| 18977241 | 2008 | Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey. | 28 |
| 19064571 | 2008 | Polymorphisms in mitochondrial genes and prostate cancer risk. | 22 |
| 17601350 | 2007 | A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition. | 33 |
| 17601350 | 2007 | A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition. | 33 |
| 1832859 | 1991 | NADH:ubiquinone oxidoreductase from bovine heart mitochondria. cDNA sequences of the import precursors of the nuclear-encoded 39 kDa and 42 kDa subunits. | 8 |
Citation
Dessen P
NDUFA9 (NADH:ubiquinone oxidoreductase subunit A9)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/70763/ndufa9-(nadh-ubiquinone-oxidoreductase-subunit-a9)
