This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for GALC. 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 = GALC 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 GALC, 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 |
|---|---|---|---|---|
| chr14:87,796,767–87,797,573 | 195.9 kb | Distal (>10kb) Multiome | 134 | |
| chr14:87,810,253–87,811,042 | 182.4 kb | Distal (>10kb) Multiome | 129 | |
| chr14:87,830,254–87,831,218 | 162.3 kb | Distal (>10kb) Multiome | 117 | |
| chr14:87,868,542–87,869,506 | 124.0 kb | Distal (>10kb) Multiome | 92 | |
| chr14:87,869,604–87,870,595 | 122.8 kb | Distal (>10kb) Multiome | 186 | |
| chr14:87,992,111–87,993,737 | at TSS | At TSS Multiome | 641 | |
| chr14:87,995,477–87,995,811 | 2.4 kb | Proximal (<10kb) | 144 | |
| chr14:88,024,347–88,025,383 | 31.8 kb | Distal (>10kb) Multiome | 449 | |
| chr14:88,155,901–88,157,142 | 163.8 kb | Distal (>10kb) Multiome HiCAR | 139 | |
| chr14:88,385,143–88,386,368 | 392.6 kb | Distal (>10kb) Multiome HiCAR | 743 |
Genomic view of the GALC 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.