The protein encoded by this gene is a subunit of the mitochondrial oxidative phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase). Complex I is localized to the inner mitochondrial membrane and functions to dehydrogenate nicotinamide adenine dinucleotide and to shuttle electrons to coenzyme Q. Complex I deficiency is the most common defect found in oxidative phosphorylation disorders and results in a range of conditions, including lethal neonatal disease, hypertrophic cardiomyopathy, liver disease, and adult-onset neurodegenerative disorders. Pseudogenes of this gene are found on chromosomes five, seven and eight. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
Transcription factors with Perturb-seq knockdown data for NDUFB9. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = NDUFB9 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of NDUFB9, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr8:124,371,408–124,373,569 | 166.4 kb | Distal (>10kb) Multiome | 891 | |
| chr8:124,425,336–124,426,470 | 112.9 kb | Distal (>10kb) Multiome | 332 | |
| chr8:124,473,813–124,475,636 | 64.3 kb | Distal (>10kb) Multiome | 970 | |
| chr8:124,538,425–124,538,723 | 398 bp | At TSS | 377 | |
| chr8:124,538,847–124,539,474 | 21 bp | At TSS Multiome | 921 | |
| chr8:124,635,289–124,635,776 | 96.5 kb | Distal (>10kb) Multiome | 230 | |
| chr8:124,726,992–124,728,984 | 189.4 kb | Distal (>10kb) Multiome | 609 | |
| chr8:124,830,627–124,831,574 | 291.9 kb | Distal (>10kb) Multiome | 135 | |
| chr8:124,963,890–124,964,452 | 425.0 kb | Distal (>10kb) Multiome HiCAR | 165 | |
| chr8:124,997,595–124,999,115 | 459.2 kb | Distal (>10kb) Multiome HiCAR | 836 |
Genomic view of the NDUFB9 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.