Identity
HGNC
LOCATION
12q22
LOCUSID
ALIAS
B17.2,DAP13,MC1DN23
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: 55967
MIM: 614530
HGNC: 23987
Ensembl: ENSG00000184752
Variants:
dbSNP: 55967
ClinVar: 55967
TCGA: ENSG00000184752
COSMIC: NDUFA12
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33715266 | 2021 | Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation. | 5 |
| 33715266 | 2021 | Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation. | 5 |
| 32335026 | 2020 | NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(-/-) mice and Leigh syndrome patients: A stabilizing role for NDUFAF2. | 22 |
| 32335026 | 2020 | NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(-/-) mice and Leigh syndrome patients: A stabilizing role for NDUFAF2. | 22 |
| 24717771 | 2014 | Supernumerary subunits NDUFA3, NDUFA5 and NDUFA12 are required for the formation of the extramembrane arm of human mitochondrial complex I. | 30 |
| 24717771 | 2014 | Supernumerary subunits NDUFA3, NDUFA5 and NDUFA12 are required for the formation of the extramembrane arm of human mitochondrial complex I. | 30 |
| 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 |
Citation
Dessen P
NDUFA12 (NADH:ubiquinone oxidoreductase subunit A12)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54493/ndufa12-(nadh-ubiquinone-oxidoreductase-subunit-a12)
