Disease-gene associations mined from literature

Literature associating ABHD4 and neutral lipid storage disease

ABHD4 [ENSP00000414558]

Alpha/beta hydrolase domain-containing protein 4; Lysophospholipase selective for N-acyl phosphatidylethanolamine (NAPE). Contributes to the biosynthesis of N-acyl ethanolamines, including the endocannabinoid anandamide by hydrolyzing the sn-1 and sn-2 acyl chains from N-acyl phosphatidylethanolamine (NAPE) generating glycerophospho-N-acyl ethanolamine (GP-NAE), an intermediate for N-acyl ethanolamine biosynthesis. Hydrolyzes substrates bearing saturated, monounsaturated, polyunsaturated N-acyl chains. Shows no significant activity towards other lysophospholipids, including lysophosphatidylcholine, lysophosphatidylethanolamine and lysophosphatidylserine (By similarity); Abhydrolase domain containing

Synonyms:  ABHD4,  ABHD4p,  hABHD4,  ABHD4-001,  ABHD4-003 ...

Linkouts:  STRING  Pharos  UniProt