NDUFAF4 (NADH:ubiquinone oxidoreductase complex assembly factor 4)

2009-03-01  

Identity

HGNC
LOCATION
6q16.1
LOCUSID
ALIAS
C6orf66,HRPAP20,HSPC125,MC1DN15,My013,bA22L21.1
FUSION GENES

Other Information

Locus ID:

NCBI: 29078
MIM: 611776
HGNC: 21034
Ensembl: ENSG00000123545

Variants:

dbSNP: 29078
ClinVar: 29078
TCGA: ENSG00000123545
COSMIC: NDUFAF4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123545ENST00000316149Q9P032

Expression (GTEx)

0
5
10
15
20
25
30
35

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
194639812009Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.48
181798822008C6ORF66 is an assembly factor of mitochondrial complex I.43
193523852009Lack of complex I is associated with oncocytic thyroid tumours.19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
179092692007Oligonucleotide microarray analysis of estrogen receptor alpha-positive postmenopausal breast carcinomas: identification of HRPAP20 and TIMELESS as outstanding candidate markers to predict the response to tamoxifen.12
170013192007HRPAP20: a novel calmodulin-binding protein that increases breast cancer cell invasion.8
288537232017NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect.4

Citation

Dessen P

NDUFAF4 (NADH:ubiquinone oxidoreductase complex assembly factor 4)

Atlas Genet Cytogenet Oncol Haematol. 2009-03-01

Online version: http://atlasgeneticsoncology.org/gene/50807/ndufaf4