DISEASES

Disease-gene associations mined from literature

Literature associating ABHD6 and PHARC syndrome

ABHD6 [ENSP00000420315]

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 ...

Linkouts:  STRING  Pharos  UniProt