rs112164069
This variant is located in the NDUFB8 gene.
▶ClinVar annotation
Uncertain Significance★☆☆☆
1 submitter3 publicationsAbout NDUFB8
Predicted to enable NADH dehydrogenase (ubiquinone) activity. Predicted to be involved in mitochondrial electron transport, NADH to ubiquinone and proton motive force-driven mitochondrial ATP synthesis. Located in mitochondrial inner membrane. Part of respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency 32. Biomarker of Alzheimer's disease and Parkinson's disease. [provided by Alliance of Genome Resources, Jul 2025]
View all NDUFB8 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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