Identity
HGNC
LOCATION
20p12.1
LOCUSID
ALIAS
C20orf7,MC1DN16,bA526K24.2,dJ842G6.1
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: 79133
MIM: 612360
HGNC: 15899
Ensembl: ENSG00000101247
Variants:
dbSNP: 79133
ClinVar: 79133
TCGA: ENSG00000101247
COSMIC: NDUFAF5
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000101247 | ENST00000378081 | B3KR61 |
| ENSG00000101247 | ENST00000378106 | Q5TEU4 |
| ENSG00000101247 | ENST00000463598 | Q5TEU4 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37718619 | 2024 | Unique prenatal manifestations of biallelic NDUFAF5 variants: expansion of phenotype. | 1 |
| 37718619 | 2024 | Unique prenatal manifestations of biallelic NDUFAF5 variants: expansion of phenotype. | 1 |
| 37752895 | 2023 | Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5. | 1 |
| 37752895 | 2023 | Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5. | 1 |
| 36421786 | 2022 | Mitochondrial Factor C20orf7 Facilitates the EMT-Mediated Cancer Cell Migration and the Proliferation of Colon Cancer In Vitro and In Vivo. | 0 |
| 36421786 | 2022 | Mitochondrial Factor C20orf7 Facilitates the EMT-Mediated Cancer Cell Migration and the Proliferation of Colon Cancer In Vitro and In Vivo. | 0 |
| 32918965 | 2021 | Nuclear DNA Mutation Causing a Phenotypic Leber Hereditary Optic Neuropathy Plus. | 4 |
| 32918965 | 2021 | Nuclear DNA Mutation Causing a Phenotypic Leber Hereditary Optic Neuropathy Plus. | 4 |
| 30473481 | 2019 | Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes. | 17 |
| 30473481 | 2019 | Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes. | 17 |
| 27226634 | 2016 | NDUFAF5 Hydroxylates NDUFS7 at an Early Stage in the Assembly of Human Complex I. | 20 |
| 27226634 | 2016 | NDUFAF5 Hydroxylates NDUFS7 at an Early Stage in the Assembly of Human Complex I. | 20 |
| 21607760 | 2012 | Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7. | 22 |
| 21607760 | 2012 | Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7. | 22 |
| 19542079 | 2010 | Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome. | 29 |
Citation
Dessen P
NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/70768/ndufaf5-(nadh-ubiquinone-oxidoreductase-complex-assembly-factor-5)
