Disease-gene associations mined from literature

Literature associating ABHD5 and megaconial type congenital muscular dystrophy

ABHD5 [ENSP00000390849]

1-acylglycerol-3-phosphate O-acyltransferase ABHD5; Lysophosphatidic acid acyltransferase which functions in phosphatidic acid biosynthesis. May regulate the cellular storage of triacylglycerol through activation of the phospholipase PNPLA2. Involved in keratinocyte differentiation. Regulates lipid droplet fusion (By similarity); Abhydrolase domain containing

Synonyms:  ABHD5,  ABHD5p,  hABHD5,  ABHD5-001,  ABHD5-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM