GBA3
glucosylceramidase beta 3 (gene/pseudogene)
Summary
The protein encoded by this gene is a cytosolic enzyme that can hydrolyze several types of glycosides. The enzyme has its highest activity at neutral pH and is predominantly expressed in human liver, kidney, intestine, and spleen. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2022]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs763723432 | 4:22,694,654 | G/A | — | uncertain significance |
| rs771324198 | 4:22,694,694 | A/G | — | uncertain significance |
| rs532322028 | 4:22,710,416 | G/T | — | — |
| rs3172708 | 4:22,731,183 | G/T | — | — |
| rs1239308424 | 4:22,737,612 | G/A | — | uncertain significance |
| rs1716342576 | 4:22,737,642 | G/A | — | uncertain significance |
| rs754048075 | 4:22,737,654 | C/T | — | uncertain significance |
| rs377374628 | 4:22,737,730 | A/G | — | uncertain significance |
| rs201138960 | 4:22,737,768 | C/T | — | uncertain significance |
| rs202201230 | 4:22,737,807 | A/G | — | uncertain significance |
| rs529839966 | 4:22,737,808 | C/T | — | uncertain significance |
| rs199890228 | 4:22,748,928 | A/T | — | uncertain significance |
| rs749114036 | 4:22,749,003 | C/T | — | uncertain significance |
| rs754345059 | 4:22,749,027 | G/A | — | uncertain significance |
| rs887048047 | 4:22,749,050 | G/C | — | uncertain significance |
| rs565050674 | 4:22,749,134 | G/T | — | uncertain significance |
| rs557252306 | 4:22,749,174 | C/T | — | uncertain significance |
| rs1190554792 | 4:22,749,216 | A/C | — | uncertain significance |
| rs377099657 | 4:22,749,226 | T/G | — | uncertain significance |
| rs1442332326 | 4:22,749,275 | A/G | — | likely benign |
| rs868042916 | 4:22,749,309 | C/T | — | uncertain significance |
| rs1716821842 | 4:22,749,434 | G/C | — | uncertain significance |
| rs1044109256 | 4:22,749,476 | C/T | — | uncertain significance |
| rs779329808 | 4:22,749,503 | G/A | — | uncertain significance |
| rs1716825433 | 4:22,749,540 | T/G | — | uncertain significance |
| rs756346948 | 4:22,749,621 | C/A | — | uncertain significance |
| rs373204012 | 4:22,750,505 | C/A | — | uncertain significance |
| rs1716860271 | 4:22,750,508 | C/A | — | uncertain significance |
| rs358255 | 4:22,793,514 | A/C | — | — |
| rs420777 | 4:22,805,792 | A/T | — | — |
| rs453881 | 4:22,806,763 | T/C | intron variant | — |
| rs373456156 | 4:22,820,364 | A/G | — | uncertain significance |
| rs2475321824 | 4:22,820,382 | G/A | — | uncertain significance |
| rs377577192 | 4:22,820,400 | A/G | — | uncertain significance |
| rs774310115 | 4:22,820,448 | G/A | — | uncertain significance |
| rs745773168 | 4:22,820,491 | C/T | — | uncertain significance |
| rs748201442 | 4:22,820,518 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.