Aliases for ABHD6 Gene
External Ids for ABHD6 Gene
Previous GeneCards Identifiers for ABHD6 Gene
GeneCards Summary for ABHD6 Gene
ABHD6 (Abhydrolase Domain Containing 6, Acylglycerol Lipase) is a Protein Coding gene. Diseases associated with ABHD6 include Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract and Retinitis Pigmentosa. Among its related pathways are GABAergic synapse and RET signaling. Gene Ontology (GO) annotations related to this gene include acylglycerol lipase activity. An important paralog of this gene is SERHL2.
UniProtKB/Swiss-Prot Summary for ABHD6 Gene
Lipase that preferentially hydrolysis medium-chain saturated monoacylglycerols including 2-arachidonoylglycerol (PubMed:22969151). Through 2-arachidonoylglycerol degradation may regulate endocannabinoid signaling pathways (By similarity). Also has a lysophosphatidyl lipase activity with a preference for lysophosphatidylglycerol among other lysophospholipids (By similarity). Also able to degrade bis(monoacylglycero)phosphate (BMP) and constitutes the major enzyme for BMP catabolism (PubMed:26491015). BMP, also known as lysobisphosphatidic acid, is enriched in late endosomes and lysosomes and plays a key role in the formation of intraluminal vesicles and in lipid sorting (PubMed:26491015).