This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for MMUT. 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 = MMUT 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 MMUT, 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 |
|---|---|---|---|---|
| chr6:47,655,873–47,656,745 | 1806.8 kb | Distal (>10kb) Multiome HiCAR | 253 | |
| chr6:47,669,628–47,670,723 | 1793.2 kb | Distal (>10kb) Multiome HiCAR | 310 | |
| chr6:47,683,753–47,684,736 | 1779.2 kb | Distal (>10kb) Multiome HiCAR | 140 | |
| chr6:48,278,290–48,278,815 | 1184.8 kb | Distal (>10kb) Multiome HiCAR | 58 | |
| chr6:49,342,385–49,343,145 | 120.6 kb | Distal (>10kb) Multiome | 169 | |
| chr6:49,462,484–49,464,008 | 18 bp | At TSS Multiome | 927 | |
| chr6:49,549,719–49,551,970 | 87.4 kb | Distal (>10kb) Multiome | 616 | |
| chr6:49,735,942–49,736,685 | 273.0 kb | Distal (>10kb) Multiome | 280 |
Genomic view of the MMUT 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.