This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Transcription factors with Perturb-seq knockdown data for DMGDH. 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 = DMGDH 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 DMGDH, 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 |
|---|---|---|---|---|
| chr5:78,984,328–78,985,552 | 251.2 kb | Distal (>10kb) Multiome | 723 | |
| chr5:79,133,486–79,134,197 | 102.1 kb | Distal (>10kb) Multiome | 405 | |
| chr5:79,181,446–79,182,087 | 54.2 kb | Distal (>10kb) Multiome | 128 | |
| chr5:79,201,015–79,202,117 | 34.4 kb | Distal (>10kb) Multiome | 171 | |
| chr5:79,235,642–79,237,807 | 44 bp | At TSS Multiome | 860 | |
| chr5:79,513,105–79,515,012 | 278.4 kb | Distal (>10kb) Multiome | 1047 |
Genomic view of the DMGDH 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.