The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]
Transcription factors with Perturb-seq knockdown data for ARSA. 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 = ARSA 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 ARSA, 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 |
|---|---|---|---|---|
| chr22:50,342,153–50,342,608 | 285.7 kb | Distal (>10kb) Multiome | 553 | |
| chr22:50,342,772–50,343,603 | 285.0 kb | Distal (>10kb) Multiome | 573 | |
| chr22:50,474,348–50,475,571 | 153.0 kb | Distal (>10kb) Multiome | 487 | |
| chr22:50,481,062–50,482,150 | 146.6 kb | Distal (>10kb) Multiome | 387 | |
| chr22:50,506,343–50,508,710 | 120.2 kb | Distal (>10kb) Multiome | 856 | |
| chr22:50,524,965–50,527,480 | 101.1 kb | Distal (>10kb) Multiome | 1031 | |
| chr22:50,529,065–50,532,692 | 97.2 kb | Distal (>10kb) Multiome | 745 | |
| chr22:50,562,609–50,563,508 | 65.2 kb | Distal (>10kb) Multiome | 680 | |
| chr22:50,582,134–50,583,431 | 45.2 kb | Distal (>10kb) Multiome | 871 | |
| chr22:50,620,434–50,620,828 | 7.3 kb | Proximal (<10kb) | 374 | |
| chr22:50,627,527–50,628,705 | 30 bp | At TSS Multiome | 685 | |
| chr22:50,674,352–50,675,344 | 46.8 kb | Distal (>10kb) Multiome | 386 | |
| chr22:50,696,725–50,697,564 | 69.2 kb | Distal (>10kb) Multiome | 184 | |
| chr22:50,720,392–50,721,059 | 92.4 kb | Distal (>10kb) Multiome | 60 |
Genomic view of the ARSA 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.