This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and cognitive disability, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for GALE. 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 = GALE 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 GALE, 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 |
|---|---|---|---|---|
| chr1:23,530,568–23,531,711 | 269.2 kb | Distal (>10kb) Multiome | 775 | |
| chr1:23,539,704–23,540,280 | 260.5 kb | Distal (>10kb) Multiome | 668 | |
| chr1:23,554,367–23,556,627 | 245.6 kb | Distal (>10kb) Multiome | 961 | |
| chr1:23,558,135–23,559,925 | 241.0 kb | Distal (>10kb) Multiome | 932 | |
| chr1:23,598,114–23,599,073 | 201.9 kb | Distal (>10kb) Multiome | 329 | |
| chr1:23,691,587–23,692,258 | 108.7 kb | Distal (>10kb) Multiome | 876 | |
| chr1:23,742,958–23,744,137 | 57.2 kb | Distal (>10kb) Multiome | 802 | |
| chr1:23,777,908–23,778,814 | 22.2 kb | Distal (>10kb) Multiome | 849 | |
| chr1:23,790,777–23,791,448 | 9.4 kb | Proximal (<10kb) Multiome | 637 | |
| chr1:23,791,670–23,792,006 | 8.8 kb | Proximal (<10kb) | 256 | |
| chr1:23,799,493–23,801,538 | 333 bp | At TSS Multiome | 922 | |
| chr1:23,825,075–23,825,633 | 24.9 kb | Distal (>10kb) Multiome | 867 | |
| chr1:23,867,741–23,868,918 | 67.8 kb | Distal (>10kb) Multiome | 766 | |
| chr1:23,958,982–23,960,271 | 159.3 kb | Distal (>10kb) Multiome | 1051 | |
| chr1:23,979,815–23,981,031 | 179.8 kb | Distal (>10kb) Multiome | 1078 | |
| chr1:23,998,624–23,999,076 | 198.4 kb | Distal (>10kb) Multiome | 19 |
Genomic view of the GALE 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.