NDUFAF6 (NADH:ubiquinone oxidoreductase complex assembly factor 6)

2014-08-01  

Identity

HGNC
LOCATION
8q22.1
LOCUSID
ALIAS
C8orf38,FRTS5,MC1DN17
FUSION GENES

Other Information

Locus ID:

NCBI: 137682
MIM: 612392
HGNC: 28625
Ensembl: ENSG00000156170

Variants:

dbSNP: 137682
ClinVar: 137682
TCGA: ENSG00000156170
COSMIC: NDUFAF6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156170ENST00000396111A0A075B6P0
ENSG00000156170ENST00000396113A0A075B6P0
ENSG00000156170ENST00000396124Q330K2
ENSG00000156170ENST00000454358H7C250
ENSG00000156170ENST00000517976H0YBQ9
ENSG00000156170ENST00000518258Q330K2
ENSG00000156170ENST00000518608H0YB05
ENSG00000156170ENST00000519136E5RHX9
ENSG00000156170ENST00000519804E5RGD6
ENSG00000156170ENST00000520632H0YB46
ENSG00000156170ENST00000520757H0YBT9
ENSG00000156170ENST00000522683H0YC61
ENSG00000156170ENST00000523337Q330K2
ENSG00000156170ENST00000523378E5RFN5

Expression (GTEx)

0
1
2
3
4
5
6
7
8

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.REACTOMER-HSA-163200
Respiratory electron transportREACTOMER-HSA-611105
Complex I biogenesisREACTOMER-HSA-6799198

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
235090702013The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit.33
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
220195942011Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1.17
274661852016Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.11
276232502016Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene.5
306427482019Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.2
284763172017Evolution, structure and membrane association of NDUFAF6, an assembly factor for NADH:ubiquinone oxidoreductase (Complex I).0

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)