ABHD12

ABHD12 or Alpha/Beta Hydrolase Domain containing 12 is a protein that in humans is encoded by the ABHD12 gene. It is a member of the serine hydrolase family of enzymes, which are involved in a variety of biological processes, including lipid metabolism, cell signaling, and inflammation.

Function

ABHD12 is a lipase that is primarily involved in the metabolism of lipids, specifically the hydrolysis of lysophosphatidylserine (LPS). This activity is crucial for maintaining the balance of lipids in the body and for the proper functioning of various physiological processes.

Clinical significance

Mutations in the ABHD12 gene are associated with a rare neurodegenerative disorder known as PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa, and Cataract). This condition is characterized by a range of symptoms including peripheral neuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract.

Research

Research into ABHD12 has increased in recent years due to its potential role in neurodegenerative diseases. Studies have shown that ABHD12 knockout mice exhibit neuroinflammation and age-related neurodegeneration, suggesting that ABHD12 may play a protective role in the nervous system.

See also

• Serine hydrolase
• Lipase
• PHARC