The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for MMAA. 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 = MMAA 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 MMAA, 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 |
|---|---|---|---|---|
| chr4:145,179,427–145,181,239 | 438.7 kb | Distal (>10kb) Multiome HiCAR | 855 | |
| chr4:145,481,315–145,483,013 | 137.5 kb | Distal (>10kb) Multiome | 700 | |
| chr4:145,609,903–145,610,090 | 9.3 kb | Proximal (<10kb) | 121 | |
| chr4:145,618,861–145,619,971 | 17 bp | At TSS Multiome | 997 | |
| chr4:145,624,298–145,624,572 | 4.9 kb | Proximal (<10kb) | 19 | |
| chr4:145,703,274–145,705,032 | 84.7 kb | Distal (>10kb) Multiome | 271 | |
| chr4:145,732,348–145,733,906 | 113.8 kb | Distal (>10kb) Multiome | 591 | |
| chr4:145,887,216–145,887,983 | 268.1 kb | Distal (>10kb) Multiome HiCAR | 199 | |
| chr4:145,909,209–145,909,939 | 290.2 kb | Distal (>10kb) Multiome | 176 | |
| chr4:146,243,313–146,244,097 | 624.3 kb | Distal (>10kb) Multiome HiCAR | 248 |
Genomic view of the MMAA 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.