Rabbit anti-Human ABHD12 Polyclonal Antibody

Uniprot Id

Q8N2K0

Target Species

Human

Target Name

ABHD12

Target Full Name

Lysophosphatidylserine lipase ABHD12

Target Function

Lysophosphatidylserine (LPS) lipase that mediates the hydrolysis of lysophosphatidylserine, a class of signaling lipids that regulates immunological and neurological processes. Represents a major lysophosphatidylserine lipase in the brain, thereby playing a key role in the central nervous system. Also able to hydrolyze oxidized phosphatidylserine; oxidized phosphatidylserine is produced in response to severe inflammatory stress and constitutes a proapoptotic 'eat me' signal. Also has monoacylglycerol (MAG) lipase activity: hydrolyzes 2-arachidonoylglycerol (2-AG), thereby acting as a regulator of endocannabinoid signaling pathways. Has a strong preference for very-long-chain lipid substrates; substrate specificity is likely due to improved catalysis and not improved substrate binding.

Target Involvement

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC)

Target Subcellular Location

Endoplasmic reticulum membrane; Single-pass membrane protein.

Target Protein Families

Serine esterase family

Target Synonyms

2-arachidonoylglycerol hydrolase; 6330583M11Rik; ABD12_HUMAN; ABHD12; ABHD12A; Abhydrolase domain containing protein 12; Abhydrolase domain-containing protein 12; AI431047; AW547313; BEM46L2; C20orf22; Monoacylglycerol lipase ABHD12; RP23-241M12.2

Target Background

This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.