HEXB
hexosaminidase subunit beta
Summary
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]
Known Variants576 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2593641 | 5:73,980,703 | A/T | — | benign |
| rs2593642 | 5:73,980,704 | T/G | — | benign |
| rs2936918 | 5:73,980,799 | G/C | — | benign |
| rs73117116 | 5:73,980,911 | G/A | — | benign |
| rs71627068 | 5:73,980,960 | C/T | — | benign |
| rs1438020226 | 5:73,980,964 | C/T | — | uncertain significance |
| rs1748827834 | 5:73,981,023 | G/A | — | uncertain significance |
| rs1045177384 | 5:73,981,024 | G/A | — | uncertain significance |
| rs886060748 | 5:73,981,034 | C/A | — | uncertain significance |
| rs886060749 | 5:73,981,072 | G/A | — | uncertain significance |
| rs1018649933 | 5:73,981,092 | C/T | — | likely benign |
| rs994808432 | 5:73,981,094 | G/T | — | likely benign |
| rs2112122203 | 5:73,981,097 | C/T | — | likely benign |
| rs1400667054 | 5:73,981,099 | G/A | — | uncertain significance |
| rs1748831599 | 5:73,981,100 | G/T | — | likely benign |
| rs1580376985 | 5:73,981,101 | C/T | — | likely benign |
| rs1029681294 | 5:73,981,105 | G/A | — | uncertain significance |
| rs771233421 | 5:73,981,106 | G/A | — | likely benign |
| rs1454404113 | 5:73,981,117 | C/T | — | uncertain significance |
| rs1207274571 | 5:73,981,118 | G/T | — | likely benign |
| rs1372034098 | 5:73,981,119 | C/T | — | uncertain significance |
| rs1311449316 | 5:73,981,121 | C/T | — | likely benign |
| rs768453548 | 5:73,981,124 | G/A | — | uncertain significance |
| rs1580377030 | 5:73,981,127 | G/A | — | likely benign |
| rs2478686211 | 5:73,981,135 | T/A | — | uncertain significance |
| rs761771731 | 5:73,981,137 | C/T | — | likely benign |
| rs2112122357 | 5:73,981,140 | T/C | — | likely benign |
| rs865822685 | 5:73,981,144 | C/A | — | uncertain significance |
| rs2478686273 | 5:73,981,145 | G/A | — | likely benign |
| rs2478686291 | 5:73,981,148 | A/G | — | likely benign |
| rs1179320600 | 5:73,981,149 | C/T | — | likely benign |
| rs1355564918 | 5:73,981,151 | G/A | — | likely benign |
| rs1453045657 | 5:73,981,154 | G/A | — | likely benign |
| rs985565568 | 5:73,981,157 | G/A | — | likely benign |
| rs1416490499 | 5:73,981,160 | G/A | — | likely benign |
| rs886060750 | 5:73,981,163 | G/A | — | uncertain significance |
| rs2478686415 | 5:73,981,164 | T/C | — | likely benign |
| rs1326498710 | 5:73,981,166 | G/A | — | likely benign |
| rs2478686562 | 5:73,981,175 | G/A | — | likely benign |
| rs1748835619 | 5:73,981,178 | T/C | — | likely benign |
| rs1554034434 | 5:73,981,179 | C/T | — | pathogenic |
| rs868106940 | 5:73,981,181 | G/C | — | uncertain significance |
| rs2478686668 | 5:73,981,187 | G/T | — | likely benign |
| rs1275258823 | 5:73,981,193 | G/A | — | likely benign |
| rs1346914562 | 5:73,981,194 | G/T | — | uncertain significance |
| rs2478686748 | 5:73,981,199 | G/A | — | likely benign |
| rs2478686769 | 5:73,981,202 | G/T | — | likely benign |
| rs767311937 | 5:73,981,203 | G/T | — | uncertain significance |
| rs2478686782 | 5:73,981,205 | G/A | — | likely benign |
| rs1457481809 | 5:73,981,211 | G/A | — | likely benign |
| rs797045614 | 5:73,981,212 | G/T | — | uncertain significance |
| rs750001501 | 5:73,981,215 | C/T | — | uncertain significance |
| rs1748837958 | 5:73,981,220 | C/T | — | likely benign |
| rs1392645389 | 5:73,981,221 | C/G | — | uncertain significance |
| rs1378693652 | 5:73,981,223 | G/A | — | likely benign |
| rs753522932 | 5:73,981,228 | T/C | — | likely benign |
| rs1554034452 | 5:73,981,231 | C/A | — | pathogenic |
| rs1166509739 | 5:73,981,232 | G/C | — | likely benign |
| rs779421706 | 5:73,981,235 | C/T | — | likely benign |
| rs758965664 | 5:73,981,241 | G/A | — | conflicting classifications of pathogenicity |
| rs992458272 | 5:73,981,243 | G/A | — | uncertain significance |
| rs1428463982 | 5:73,981,244 | G/A | — | likely benign |
| rs778119481 | 5:73,981,245 | C/A | — | conflicting classifications of pathogenicity |
| rs770910232 | 5:73,981,249 | C/T | — | conflicting classifications of pathogenicity |
| rs62368217 | 5:73,981,250 | G/T | — | likely benign |
| rs781190906 | 5:73,981,251 | C/T | — | likely benign |
| rs1114167287 | 5:73,981,255 | G/A | — | pathogenic |
| rs769964813 | 5:73,981,259 | C/T | — | likely benign |
| rs774155487 | 5:73,981,261 | T/C | — | uncertain significance |
| rs761575773 | 5:73,981,263 | C/A | — | uncertain significance |
| rs772089862 | 5:73,981,265 | G/A | — | likely benign |
| rs1415184639 | 5:73,981,266 | C/T | — | likely benign |
| rs820878 | 5:73,981,270 | T/C | missense variant | benign |
| rs776211390 | 5:73,981,272 | G/A | — | uncertain significance |
| rs145144279 | 5:73,981,274 | G/A | — | likely benign |
| rs1401592690 | 5:73,981,275 | A/G | — | uncertain significance |
| rs753159338 | 5:73,981,282 | C/T | — | uncertain significance |
| rs371914695 | 5:73,981,286 | G/A | — | likely benign |
| rs552152839 | 5:73,981,295 | G/T | — | likely benign |
| rs147155126 | 5:73,981,299 | C/T | — | likely benign |
| rs780221860 | 5:73,981,301 | C/T | — | likely benign |
| rs771754401 | 5:73,981,304 | C/G | — | likely benign |
| rs1748843339 | 5:73,981,306 | C/G | — | uncertain significance |
| rs1038526300 | 5:73,981,316 | C/T | — | likely benign |
| rs770859307 | 5:73,981,319 | C/T | — | likely benign |
| rs2478687679 | 5:73,981,321 | T/C | — | uncertain significance |
| rs2112123022 | 5:73,981,325 | C/T | — | likely benign |
| rs776301441 | 5:73,981,334 | C/T | — | likely benign |
| rs897304925 | 5:73,981,335 | A/C | — | uncertain significance |
| rs200209801 | 5:73,981,336 | A/G | — | likely benign |
| rs2478687750 | 5:73,981,340 | C/T | — | likely benign |
| rs1200638175 | 5:73,981,346 | G/A | — | likely benign |
| rs1580377415 | 5:73,981,349 | C/A | — | likely benign |
| rs2478687833 | 5:73,981,352 | C/T | — | likely benign |
| rs369865661 | 5:73,981,354 | C/G | — | uncertain significance |
| rs1057518709 | 5:73,981,357 | G/C | — | uncertain significance |
| rs140509633 | 5:73,981,361 | C/T | — | likely benign |
| rs2478687893 | 5:73,981,367 | G/A | — | likely benign |
| rs1441401979 | 5:73,981,374 | G/A | — | uncertain significance |
| rs1007338250 | 5:73,981,383 | C/T | — | pathogenic |
Showing 100 of 576 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.