NDUFB8 (NADH:ubiquinone oxidoreductase subunit B8)

2007-12-01  

Identity

HGNC
LOCATION
10q24.31
LOCUSID
ALIAS
ASHI,CI-ASHI,MC1DN32

Other Information

Locus ID:

NCBI: 4714
MIM: 602140
HGNC: 7703
Ensembl: ENSG00000166136

Variants:

dbSNP: 4714
ClinVar: 4714
TCGA: ENSG00000166136
COSMIC: NDUFB8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166136ENST00000299166O95169
ENSG00000166136ENST00000370320O95169
ENSG00000166136ENST00000370322O95169
ENSG00000166136ENST00000528425E9PIZ8

Expression (GTEx)

0
50
100
150
200
250
300
350

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 beta subcomplexKEGGhsa_M00147
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932
NADH dehydrogenase (ubiquinone) 1 beta subcomplexKEGGM00147
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
176013502007A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.27
189772412008Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.20
190645712008Polymorphisms in mitochondrial genes and prostate cancer risk.20
291422572017Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.6
294295712018NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.6
177272442007PTEN and NDUFB8 aberrations in cervical cancer tissue.2

Citation

Dessen P

NDUFB8 (NADH:ubiquinone oxidoreductase subunit B8)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49909/ndufb8