Identity
HGNC
LOCATION
8q22.1
LOCUSID
ALIAS
C8orf38,FRTS5,MC1DN17
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: 137682
MIM: 612392
HGNC: 28625
Ensembl: ENSG00000156170
Variants:
dbSNP: 137682
ClinVar: 137682
TCGA: ENSG00000156170
COSMIC: NDUFAF6
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38720117 | 2024 | Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. | 0 |
| 38720117 | 2024 | Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. | 0 |
| 35237031 | 2022 | Genetic Effects of NDUFAF6 rs6982393 and APOE on Alzheimer's Disease in Chinese Rural Elderly: A Cross-Sectional Population-Based Study. | 0 |
| 35237031 | 2022 | Genetic Effects of NDUFAF6 rs6982393 and APOE on Alzheimer's Disease in Chinese Rural Elderly: A Cross-Sectional Population-Based Study. | 0 |
| 30642748 | 2019 | Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood. | 11 |
| 30642748 | 2019 | Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood. | 11 |
| 28476317 | 2017 | Evolution, structure and membrane association of NDUFAF6, an assembly factor for NADH:ubiquinone oxidoreductase (Complex I). | 7 |
| 28476317 | 2017 | Evolution, structure and membrane association of NDUFAF6, an assembly factor for NADH:ubiquinone oxidoreductase (Complex I). | 7 |
| 27466185 | 2016 | Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6. | 30 |
| 27623250 | 2016 | Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene. | 9 |
| 27466185 | 2016 | Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6. | 30 |
| 27623250 | 2016 | Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene. | 9 |
| 23509070 | 2013 | The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit. | 39 |
| 23509070 | 2013 | The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit. | 39 |
| 22019594 | 2011 | Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1. | 25 |
Citation
Dessen P
NDUFAF6 (NADH:ubiquinone oxidoreductase complex assembly factor 6)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54494/ndufaf6-(nadh-ubiquinone-oxidoreductase-complex-assembly-factor-6)
