Neuropathy target esterase

Neuropathy target esterase (NTE), also known as patatin-like phospholipase domain-containing protein 6 (PNPLA6), is an enzyme that in humans is encoded by the PNPLA6 gene. NTE is involved in the metabolism of lipids and has been associated with a variety of neurological disorders, including neuropathy and spastic paraplegia.

Function

Neuropathy target esterase is a membrane-associated enzyme found in high concentrations in the nervous system. It is involved in the hydrolysis of phosphatidylcholine, a type of phospholipid that is abundant in cell membranes. This process is crucial for the maintenance of cell membrane integrity and function.

Clinical significance

Mutations in the PNPLA6 gene that encodes NTE have been associated with several neurological disorders. These include:

• Infantile neuroaxonal dystrophy (INAD): A severe neurodegenerative disorder that begins in infancy and leads to early death. Symptoms include progressive loss of vision, intellectual and motor deterioration, and seizures.

• Boucher-Neuhäuser syndrome: A rare condition characterized by ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy.

• Gordon Holmes syndrome: A condition characterized by ataxia, dementia, and hypogonadotropic hypogonadism.

• Laurence-Moon syndrome: A condition characterized by retinitis pigmentosa, mental retardation, and spastic paraplegia.

See also

• Phospholipase
• Neurodegenerative disorders
• Phosphatidylcholine

References

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