The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for GNS. 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 = GNS 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 GNS, 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 |
|---|---|---|---|---|
| chr12:64,543,521–64,544,182 | 215.7 kb | Distal (>10kb) Multiome | 54 | |
| chr12:64,608,914–64,611,341 | 149.0 kb | Distal (>10kb) Multiome | 922 | |
| chr12:64,681,872–64,683,616 | 76.5 kb | Distal (>10kb) Multiome | 397 | |
| chr12:64,758,714–64,760,174 | 24 bp | At TSS Multiome | 809 | |
| chr12:64,780,224–64,781,694 | 21.4 kb | Distal (>10kb) Multiome | 599 | |
| chr12:64,824,273–64,825,855 | 65.3 kb | Distal (>10kb) Multiome | 351 |
Genomic view of the GNS 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.