Overview

PNPLA6


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An esterase, one of a family of patatin domain-containing proteins, a glycoprotein (patatin-like phospholipase domain-containing protein-6, neuropathy target esterase, 1366 aa) that hydrolyses lysophosphatidylcholine and is involved in neuronal development. It is the target for neurodegeneration induced by some organophosphorus pesticides (organophosphate-induced delayed neurotoxicity (OPIDN). Mutations lead to autosomal recessive hereditary spastic paraplegia type 39 (SPG39).

Subjects: Medicine and Health.


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