Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for COX10. 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 = COX10 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 COX10, 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 |
|---|---|---|---|---|
| chr17:13,600,452–13,602,595 | 467.4 kb | Distal (>10kb) Multiome HiCAR | 570 | |
| chr17:13,922,335–13,923,220 | 146.6 kb | Distal (>10kb) Multiome | 33 | |
| chr17:14,069,121–14,069,983 | 36 bp | At TSS Multiome | 810 | |
| chr17:14,297,092–14,298,113 | 228.1 kb | Distal (>10kb) Multiome | 567 | |
| chr17:14,300,397–14,303,082 | 231.5 kb | Distal (>10kb) Multiome | 904 | |
| chr17:14,308,769–14,310,537 | 239.9 kb | Distal (>10kb) Multiome | 830 | |
| chr17:14,323,613–14,324,323 | 254.3 kb | Distal (>10kb) Multiome | 110 | |
| chr17:14,331,196–14,332,727 | 262.3 kb | Distal (>10kb) Multiome | 319 |
Genomic view of the COX10 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.