This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
Transcription factors with Perturb-seq knockdown data for HEXA. 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 = HEXA 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 HEXA, 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 |
|---|---|---|---|---|
| chr15:72,116,889–72,118,908 | 257.8 kb | Distal (>10kb) Multiome | 885 | |
| chr15:72,184,180–72,184,756 | 191.5 kb | Distal (>10kb) Multiome | 376 | |
| chr15:72,196,452–72,198,720 | 178.1 kb | Distal (>10kb) Multiome | 458 | |
| chr15:72,226,391–72,227,225 | 149.1 kb | Distal (>10kb) Multiome | 515 | |
| chr15:72,229,966–72,232,028 | 144.6 kb | Distal (>10kb) Multiome | 1128 | |
| chr15:72,242,418–72,243,365 | 133.0 kb | Distal (>10kb) Multiome | 236 | |
| chr15:72,271,919–72,273,237 | 103.2 kb | Distal (>10kb) Multiome | 687 | |
| chr15:72,319,497–72,320,675 | 55.9 kb | Distal (>10kb) Multiome | 632 | |
| chr15:72,375,551–72,376,566 | 38 bp | At TSS Multiome | 1074 | |
| chr15:72,473,670–72,475,497 | 98.2 kb | Distal (>10kb) Multiome | 1105 |
Genomic view of the HEXA 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.