This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
Transcription factors with Perturb-seq knockdown data for MTR. 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 = MTR 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 MTR, 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 |
|---|---|---|---|---|
| chr1:236,603,983–236,605,319 | 190.7 kb | Distal (>10kb) Multiome | 928 | |
| chr1:236,685,947–236,687,221 | 108.8 kb | Distal (>10kb) Multiome | 483 | |
| chr1:236,794,715–236,796,156 | 48 bp | At TSS Multiome | 1141 | |
| chr1:237,031,435–237,032,652 | 236.9 kb | Distal (>10kb) Multiome | 236 | |
| chr1:237,041,385–237,043,717 | 246.8 kb | Distal (>10kb) Multiome | 473 |
Genomic view of the MTR 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.