NDUFA6 (NADH:ubiquinone oxidoreductase subunit A6)

2014-11-01  

Identity

HGNC
LOCATION
22q13.2
LOCUSID
ALIAS
B14,CI-B14,LYRM6,MC1DN33,NADHB14
FUSION GENES

Other Information

Locus ID:

NCBI: 4700
MIM: 602138
HGNC: 7690
Ensembl: ENSG00000184983

Variants:

dbSNP: 4700
ClinVar: 4700
TCGA: ENSG00000184983
COSMIC: NDUFA6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184983ENST00000470753R4GN43
ENSG00000184983ENST00000498737P56556
ENSG00000184983ENST00000617763A0A2Y9D025

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Oxidative phosphorylationKEGGko00190
Alzheimer's diseaseKEGGko05010
Huntington's diseaseKEGGko05016
Oxidative phosphorylationKEGGhsa00190
Alzheimer's diseaseKEGGhsa05010
Parkinson's diseaseKEGGhsa05012
Huntington's diseaseKEGGhsa05016
Metabolic pathwaysKEGGhsa01100
NADH dehydrogenase (ubiquinone) 1 alpha subcomplexKEGGhsa_M00146
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932
NADH dehydrogenase (ubiquinone) 1 alpha subcomplexKEGGM00146
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

References

Pubmed IDYearTitleCitations
176013502007A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.27
208197782010MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.21
189772412008Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
193430462009Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.3

Citation

Dessen P

NDUFA6 (NADH:ubiquinone oxidoreductase subunit A6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70759/ndufa6