Literature associating ABHD6 and PHARC syndrome
Abhydrolase domain-containing protein 6; Lipase that preferentially hydrolysis medium-chain saturated monoacylglycerols including 2-arachidonoylglycerol. Through 2-arachidonoylglycerol degradation may regulate endocannabinoid signaling pathways. May also have a lysophosphatidyl lipase activity with a preference for lysophosphatidylglycerol among other lysophospholipids (By similarity); Belongs to the AB hydrolase superfamily.
Synonyms: ABHD6, ABHD6p, hABHD6, A0A024R323, C9J010 ...