This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for GLA. 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 = GLA 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 GLA, 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 |
|---|---|---|---|---|
| chrX:101,348,449–101,349,149 | 59.2 kb | Distal (>10kb) Multiome | 567 | |
| chrX:101,390,531–101,391,386 | 17.1 kb | Distal (>10kb) Multiome | 762 | |
| chrX:101,407,491–101,408,749 | 119 bp | At TSS Multiome | 745 | |
| chrX:101,415,556–101,415,814 | 7.5 kb | Proximal (<10kb) | 120 | |
| chrX:101,417,975–101,418,807 | 10.4 kb | Distal (>10kb) Multiome | 296 | |
| chrX:101,484,988–101,486,015 | 77.4 kb | Distal (>10kb) Multiome | 155 | |
| chrX:101,550,213–101,551,613 | 142.6 kb | Distal (>10kb) Multiome | 249 | |
| chrX:101,617,258–101,618,125 | 209.7 kb | Distal (>10kb) Multiome | 435 | |
| chrX:101,622,792–101,623,603 | 215.1 kb | Distal (>10kb) Multiome | 410 |
Genomic view of the GLA 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.