| Primary Identifier | IPR026605 | Type | Family |
| Short Name | ABHD12 |
| description | ABHD12 (also known as the abhydrolase domain-containing protein 12) is a lysophosphatidylserine (LPS) lipase that mediates the hydrolysis of lysophosphatidylserine, a class of signaling lipids that regulates immunological and neurological processes [, ]. In humans, defects in ABHD12 are the cause of polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract (PHARC). PHARC is a slowly progressive neurologic disorder []. |
