This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
Transcription factors with Perturb-seq knockdown data for NDUFA12. 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 = NDUFA12 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 NDUFA12, 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 |
|---|---|---|---|---|
| chr12:94,731,827–94,732,454 | 271.6 kb | Distal (>10kb) Multiome | 96 | |
| chr12:94,815,972–94,816,516 | 187.6 kb | Distal (>10kb) Multiome | 183 | |
| chr12:94,872,875–94,874,146 | 130.0 kb | Distal (>10kb) Multiome | 358 | |
| chr12:95,003,172–95,003,905 | 21 bp | At TSS Multiome | 875 | |
| chr12:95,072,721–95,073,838 | 69.9 kb | Distal (>10kb) Multiome | 927 | |
| chr12:95,129,410–95,130,455 | 126.4 kb | Distal (>10kb) Multiome | 158 | |
| chr12:95,216,693–95,218,575 | 213.9 kb | Distal (>10kb) Multiome | 1001 |
Genomic view of the NDUFA12 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.