ABHD6
abhydrolase domain containing 6, acylglycerol lipase
Summary
Enables monoacylglycerol lipase activity. Involved in acylglycerol catabolic process. Predicted to be located in late endosome membrane and lysosomal membrane. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in GABA-ergic synapse; glutamatergic synapse; and postsynaptic membrane. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6808671 | 3:58,231,112 | C/T | intron variant | — |
| rs6445961 | 3:58,232,659 | G/C | — | — |
| rs138859472 | 3:58,242,335 | A/T | — | uncertain significance |
| rs201561775 | 3:58,242,348 | C/T | — | uncertain significance |
| rs2471370041 | 3:58,242,416 | A/C | — | uncertain significance |
| rs150907072 | 3:58,252,948 | G/A | — | uncertain significance |
| rs753520030 | 3:58,255,057 | A/G | — | uncertain significance |
| rs777654004 | 3:58,255,094 | A/G | — | uncertain significance |
| rs1201477448 | 3:58,260,438 | G/C | — | uncertain significance |
| rs764884963 | 3:58,260,447 | G/A | — | uncertain significance |
| rs115434226 | 3:58,260,547 | C/T | — | benign |
| rs984110597 | 3:58,270,853 | C/A | — | uncertain significance |
| rs754217725 | 3:58,270,861 | G/A | — | uncertain significance |
| rs181333459 | 3:58,276,943 | A/G | intron variant | — |
| rs2471434816 | 3:58,279,325 | G/A | — | uncertain significance |
| rs758285449 | 3:58,279,370 | G/T | — | uncertain significance |
| rs1332315804 | 3:58,279,469 | G/C | — | uncertain significance |
| rs146742146 | 3:58,279,470 | A/G | — | uncertain significance |
| rs6925 | 3:58,280,089 | G/A | 3 prime UTR variant | — |
| rs9857570 | 3:58,280,690 | A/G | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.