Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]
Transcription factors with Perturb-seq knockdown data for PFKM. 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 = PFKM 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 PFKM, 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 |
|---|---|---|---|---|
| chr12:47,818,868–47,821,142 | 299.4 kb | Distal (>10kb) Multiome | 777 | |
| chr12:47,904,573–47,905,755 | 214.2 kb | Distal (>10kb) Multiome | 575 | |
| chr12:47,942,159–47,942,641 | 176.9 kb | Distal (>10kb) Multiome | 160 | |
| chr12:47,963,134–47,964,083 | 155.8 kb | Distal (>10kb) Multiome | 742 | |
| chr12:48,000,982–48,002,307 | 117.8 kb | Distal (>10kb) Multiome | 379 | |
| chr12:48,003,968–48,005,434 | 114.7 kb | Distal (>10kb) Multiome | 366 | |
| chr12:48,021,709–48,022,295 | 97.4 kb | Distal (>10kb) Multiome | 419 | |
| chr12:48,023,364–48,024,084 | 95.7 kb | Distal (>10kb) Multiome | 188 | |
| chr12:48,037,309–48,037,998 | 81.7 kb | Distal (>10kb) Multiome | 157 | |
| chr12:48,105,562–48,106,521 | 13.3 kb | Distal (>10kb) Multiome | 962 | |
| chr12:48,118,916–48,119,822 | 4 bp | At TSS Multiome | 486 | |
| chr12:48,156,989–48,157,958 | 38.2 kb | Distal (>10kb) Multiome | 767 | |
| chr12:48,183,072–48,184,156 | 64.1 kb | Distal (>10kb) Multiome | 407 | |
| chr12:48,197,601–48,198,835 | 78.9 kb | Distal (>10kb) Multiome | 631 | |
| chr12:48,296,399–48,297,046 | 177.4 kb | Distal (>10kb) Multiome | 297 | |
| chr12:48,350,111–48,351,553 | 231.6 kb | Distal (>10kb) Multiome | 817 |
Genomic view of the PFKM 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.