The product of this gene catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for MCEE. 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 = MCEE 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 MCEE, 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 |
|---|---|---|---|---|
| chr2:70,887,498–70,887,945 | 242.4 kb | Distal (>10kb) Multiome | 377 | |
| chr2:70,888,885–70,889,375 | 241.0 kb | Distal (>10kb) Multiome | 192 | |
| chr2:70,899,864–70,901,996 | 229.8 kb | Distal (>10kb) Multiome | 834 | |
| chr2:70,976,676–70,977,663 | 152.9 kb | Distal (>10kb) Multiome | 372 | |
| chr2:70,978,404–70,979,416 | 151.3 kb | Distal (>10kb) Multiome | 229 | |
| chr2:70,994,406–70,995,235 | 135.3 kb | Distal (>10kb) Multiome | 805 | |
| chr2:71,067,597–71,069,479 | 61.7 kb | Distal (>10kb) Multiome | 1161 | |
| chr2:71,103,036–71,103,639 | 26.8 kb | Distal (>10kb) Multiome | 56 | |
| chr2:71,129,728–71,130,863 | 158 bp | At TSS Multiome | 1092 | |
| chr2:71,130,981–71,131,111 | 742 bp | At TSS | 209 | |
| chr2:71,226,288–71,227,849 | 97.1 kb | Distal (>10kb) Multiome | 657 | |
| chr2:71,276,206–71,277,158 | 146.3 kb | Distal (>10kb) Multiome | 790 | |
| chr2:71,331,200–71,332,517 | 201.6 kb | Distal (>10kb) Multiome | 920 |
Genomic view of the MCEE 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.