The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]
Transcription factors with Perturb-seq knockdown data for MMACHC. 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 = MMACHC 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 MMACHC, 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 |
|---|---|---|---|---|
| chr1:44,783,907–44,784,940 | 715.9 kb | Distal (>10kb) Multiome HiCAR | 497 | |
| chr1:44,786,163–44,786,815 | 713.9 kb | Distal (>10kb) Multiome HiCAR | 616 | |
| chr1:44,818,937–44,820,693 | 680.3 kb | Distal (>10kb) Multiome HiCAR | 1101 | |
| chr1:45,010,856–45,013,180 | 488.1 kb | Distal (>10kb) Multiome HiCAR | 909 | |
| chr1:45,205,664–45,207,097 | 293.8 kb | Distal (>10kb) Multiome | 691 | |
| chr1:45,216,712–45,217,234 | 283.3 kb | Distal (>10kb) Multiome | 42 | |
| chr1:45,303,203–45,304,881 | 196.5 kb | Distal (>10kb) Multiome | 1034 | |
| chr1:45,315,837–45,316,870 | 184.2 kb | Distal (>10kb) Multiome | 113 | |
| chr1:45,317,165–45,317,643 | 182.9 kb | Distal (>10kb) Multiome | 7 | |
| chr1:45,321,623–45,322,180 | 178.6 kb | Distal (>10kb) Multiome | 54 | |
| chr1:45,326,327–45,328,092 | 173.5 kb | Distal (>10kb) Multiome | 382 | |
| chr1:45,339,505–45,340,694 | 160.2 kb | Distal (>10kb) Multiome | 951 | |
| chr1:45,490,605–45,491,773 | 9.0 kb | Proximal (<10kb) Multiome | 900 | |
| chr1:45,499,499–45,500,620 | 184 bp | At TSS Multiome | 831 | |
| chr1:45,521,163–45,522,604 | 21.6 kb | Distal (>10kb) Multiome | 1155 | |
| chr1:45,550,427–45,551,304 | 50.5 kb | Distal (>10kb) Multiome | 1006 | |
| chr1:45,583,145–45,585,182 | 84.4 kb | Distal (>10kb) Multiome | 997 | |
| chr1:45,622,461–45,623,374 | 122.7 kb | Distal (>10kb) Multiome | 169 | |
| chr1:45,686,052–45,687,740 | 186.8 kb | Distal (>10kb) Multiome | 1015 | |
| chr1:45,687,860–45,688,505 | 188.1 kb | Distal (>10kb) Multiome | 861 | |
| chr1:45,750,186–45,751,093 | 250.4 kb | Distal (>10kb) Multiome | 961 |
Genomic view of the MMACHC 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.