Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
Transcription factors with Perturb-seq knockdown data for HEXB. 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 = HEXB 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 HEXB, 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 |
|---|---|---|---|---|
| chr5:74,507,243–74,508,516 | 177.2 kb | Distal (>10kb) Multiome | 61 | |
| chr5:74,515,759–74,516,668 | 168.9 kb | Distal (>10kb) Multiome | 152 | |
| chr5:74,536,561–74,538,457 | 147.3 kb | Distal (>10kb) Multiome | 426 | |
| chr5:74,543,139–74,544,218 | 141.5 kb | Distal (>10kb) Multiome | 418 | |
| chr5:74,555,513–74,556,350 | 129.1 kb | Distal (>10kb) Multiome | 100 | |
| chr5:74,625,689–74,626,268 | 59.2 kb | Distal (>10kb) Multiome | 148 | |
| chr5:74,631,192–74,632,778 | 53.7 kb | Distal (>10kb) Multiome | 598 | |
| chr5:74,639,680–74,641,657 | 44.4 kb | Distal (>10kb) Multiome | 999 | |
| chr5:74,684,927–74,685,413 | 38 bp | At TSS Multiome | 765 | |
| chr5:74,766,697–74,767,753 | 82.0 kb | Distal (>10kb) Multiome | 976 | |
| chr5:74,865,358–74,867,179 | 181.1 kb | Distal (>10kb) Multiome | 747 | |
| chr5:74,882,799–74,883,395 | 197.8 kb | Distal (>10kb) Multiome | 109 | |
| chr5:74,903,262–74,903,711 | 218.3 kb | Distal (>10kb) Multiome HiCAR | 301 |
Genomic view of the HEXB 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.