This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Transcription factors with Perturb-seq knockdown data for GAA. 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 = GAA 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 GAA, 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 |
|---|---|---|---|---|
| chr17:79,810,019–79,810,463 | 291.3 kb | Distal (>10kb) Multiome | 392 | |
| chr17:79,813,160–79,813,861 | 288.1 kb | Distal (>10kb) Multiome | 350 | |
| chr17:79,834,107–79,837,863 | 265.3 kb | Distal (>10kb) Multiome | 885 | |
| chr17:79,838,651–79,840,856 | 262.1 kb | Distal (>10kb) Multiome | 954 | |
| chr17:79,924,070–79,924,677 | 177.2 kb | Distal (>10kb) Multiome | 279 | |
| chr17:79,926,061–79,926,673 | 175.2 kb | Distal (>10kb) Multiome | 366 | |
| chr17:79,991,451–79,992,302 | 109.8 kb | Distal (>10kb) Multiome | 655 | |
| chr17:80,008,356–80,008,965 | 92.9 kb | Distal (>10kb) Multiome | 554 | |
| chr17:80,035,332–80,037,314 | 64.7 kb | Distal (>10kb) Multiome | 852 | |
| chr17:80,101,092–80,102,236 | 75 bp | At TSS Multiome | 851 | |
| chr17:80,146,527–80,148,008 | 45.7 kb | Distal (>10kb) Multiome | 955 | |
| chr17:80,219,620–80,221,064 | 118.9 kb | Distal (>10kb) Multiome | 809 | |
| chr17:80,260,016–80,260,559 | 158.8 kb | Distal (>10kb) Multiome | 677 | |
| chr17:80,260,789–80,261,746 | 160.0 kb | Distal (>10kb) Multiome | 896 | |
| chr17:80,308,064–80,309,516 | 206.8 kb | Distal (>10kb) Multiome | 193 | |
| chr17:80,376,366–80,377,013 | 275.1 kb | Distal (>10kb) Multiome | 75 |
Genomic view of the GAA 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.