This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for IDUA. 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 = IDUA 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 IDUA, 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 |
|---|---|---|---|---|
| chr4:688,280–689,636 | 297.7 kb | Distal (>10kb) Multiome | 218 | |
| chr4:705,313–706,398 | 281.3 kb | Distal (>10kb) Multiome | 613 | |
| chr4:781,187–782,732 | 205.0 kb | Distal (>10kb) Multiome | 893 | |
| chr4:825,232–826,278 | 161.2 kb | Distal (>10kb) Multiome | 317 | |
| chr4:931,599–932,710 | 54.7 kb | Distal (>10kb) Multiome | 818 | |
| chr4:945,351–946,054 | 41.4 kb | Distal (>10kb) Multiome | 73 | |
| chr4:972,792–974,408 | 13.4 kb | Distal (>10kb) Multiome | 437 | |
| chr4:985,192–985,448 | 1.6 kb | Proximal (<10kb) | 378 | |
| chr4:986,645–987,589 | 102 bp | At TSS Multiome | 723 | |
| chr4:1,002,360–1,003,561 | 16.2 kb | Distal (>10kb) Multiome | 176 | |
| chr4:1,008,768–1,012,870 | 24.4 kb | Distal (>10kb) Multiome | 793 | |
| chr4:1,113,486–1,113,937 | 126.7 kb | Distal (>10kb) Multiome | 183 | |
| chr4:1,167,206–1,167,987 | 180.5 kb | Distal (>10kb) Multiome | 553 | |
| chr4:1,247,634–1,250,121 | 261.9 kb | Distal (>10kb) Multiome | 835 |
Genomic view of the IDUA 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.