This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]
Transcription factors with Perturb-seq knockdown data for MMADHC. 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 = MMADHC 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 MMADHC, 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 |
|---|---|---|---|---|
| chr2:149,037,769–149,039,431 | 549.0 kb | Distal (>10kb) Multiome HiCAR | 414 | |
| chr2:149,329,167–149,331,592 | 257.2 kb | Distal (>10kb) Multiome | 688 | |
| chr2:149,587,059–149,588,359 | 17 bp | At TSS Multiome | 991 | |
| chr2:149,597,434–149,598,207 | 9.7 kb | Proximal (<10kb) | 317 | |
| chr2:150,484,918–150,488,116 | 900.0 kb | Distal (>10kb) Multiome HiCAR | 788 | |
| chr2:150,675,594–150,676,590 | 1088.3 kb | Distal (>10kb) Multiome HiCAR | 114 | |
| chr2:151,261,080–151,262,216 | 1673.9 kb | Distal (>10kb) Multiome HiCAR | 869 | |
| chr2:151,408,735–151,410,773 | 1822.2 kb | Distal (>10kb) Multiome HiCAR | 1137 |
Genomic view of the MMADHC 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.