This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jun 2017]
Transcription factors with Perturb-seq knockdown data for SGSH. 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 = SGSH 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 SGSH, 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 |
|---|---|---|---|---|
| chr17:79,924,070–79,924,677 | 296.0 kb | Distal (>10kb) Multiome | 279 | |
| chr17:79,926,061–79,926,673 | 294.0 kb | Distal (>10kb) Multiome | 366 | |
| chr17:79,991,451–79,992,302 | 228.6 kb | Distal (>10kb) Multiome | 655 | |
| chr17:80,008,356–80,008,965 | 211.7 kb | Distal (>10kb) Multiome | 554 | |
| chr17:80,035,332–80,037,314 | 183.4 kb | Distal (>10kb) Multiome | 852 | |
| chr17:80,101,092–80,102,236 | 118.9 kb | Distal (>10kb) Multiome | 851 | |
| chr17:80,146,527–80,148,008 | 73.1 kb | Distal (>10kb) Multiome | 955 | |
| chr17:80,219,620–80,221,064 | 84 bp | At TSS Multiome | 809 | |
| chr17:80,260,016–80,260,559 | 40.0 kb | Distal (>10kb) Multiome | 677 | |
| chr17:80,260,789–80,261,746 | 41.2 kb | Distal (>10kb) Multiome | 896 | |
| chr17:80,308,064–80,309,516 | 88.0 kb | Distal (>10kb) Multiome | 193 | |
| chr17:80,376,366–80,377,013 | 156.4 kb | Distal (>10kb) Multiome | 75 | |
| chr17:80,407,766–80,408,220 | 187.6 kb | Distal (>10kb) Multiome | 12 | |
| chr17:80,414,488–80,415,786 | 194.9 kb | Distal (>10kb) Multiome | 964 | |
| chr17:80,426,748–80,427,205 | 206.7 kb | Distal (>10kb) Multiome | 529 | |
| chr17:80,454,454–80,455,448 | 234.5 kb | Distal (>10kb) Multiome | 1002 | |
| chr17:80,477,689–80,478,296 | 257.9 kb | Distal (>10kb) Multiome | 240 |
Genomic view of the SGSH 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.