Identity
HGNC
LOCATION
Xq24
LOCUSID
ALIAS
CI-MWFE,MC1DN12,MWFE,ZNF183
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: 4694
MIM: 300078
HGNC: 7683
Ensembl: ENSG00000125356
Variants:
dbSNP: 4694
ClinVar: 4694
TCGA: ENSG00000125356
COSMIC: NDUFA1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000125356 | ENST00000371437 | O15239 |
| ENSG00000125356 | ENST00000371437 | Q6IBB5 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35131137 | 2022 | NDUFA1 p.Gly32Arg variant in early-onset dementia. | 3 |
| 35131137 | 2022 | NDUFA1 p.Gly32Arg variant in early-onset dementia. | 3 |
| 27177495 | 2016 | Altered mitochondrial expression genes in patients receiving right ventricular apical pacing. | 1 |
| 27177495 | 2016 | Altered mitochondrial expression genes in patients receiving right ventricular apical pacing. | 1 |
| 26288249 | 2015 | Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development. | 25 |
| 26288249 | 2015 | Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development. | 25 |
| 23791750 | 2013 | Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group A. | 38 |
| 23791750 | 2013 | Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group A. | 38 |
| 21596602 | 2011 | Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. | 5 |
| 21596602 | 2011 | Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. | 5 |
| 20153825 | 2010 | Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts. | 31 |
| 20153825 | 2010 | Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts. | 31 |
| 19185523 | 2009 | A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. | 34 |
| 19343046 | 2009 | Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. | 4 |
| 19185523 | 2009 | A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. | 34 |
Citation
Dessen P
NDUFA1 (NADH:ubiquinone oxidoreductase subunit A1)
Atlas Genet Cytogenet Oncol Haematol. 2003-06-01
Online version: http://atlasgeneticsoncology.org/gene/41516/ndufa1
