ABHD12

ABHD12

ABHD12 is an integral membrane serine hydrolase, which is highly expressed in the central nervous system (CNS) and in innate immune cells (e.g., macrophages, microglia). ABHD12 metabolizes bioactive lysophospholipids, including lysophosphatidylserine (lyso-PS). Deleterious mutations in human ABHD12 cause the neurological disease PHARC, and ABHD12(−/−) mice display PHARC-like phenotypes, including hearing loss, along with elevated brain lyso-PS and features of stimulated innate immune cell function.

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More About ABHD12

ABHD12 is an integral membrane serine hydrolase, which is highly expressed in the central nervous system (CNS) and in innate immune cells (e.g., macrophages, microglia). ABHD12 metabolizes bioactive lysophospholipids, including lysophosphatidylserine (lyso-PS). Deleterious mutations in human ABHD12 cause the neurological disease PHARC, and ABHD12(−/−) mice display PHARC-like phenotypes, including hearing loss, along with elevated brain lyso-PS and features of stimulated innate immune cell function.[1]

[1] D. Ogasawara et al. Selective blockade of the lyso-PS lipase ABHD12 stimulates immune responses in vivo. Nat Chem Biol. 2018 Dec;14(12):1099-1108.

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