PNPLA6 : patatin like phospholipase domain containing 6

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Description

The PNPLA6 (patatin like phospholipase domain containing 6) is a protein-coding gene located on chromosome 19.

The PNPLA6 gene provides instructions for making a protein called neuropathy target esterase (NTE). The NTE protein is involved in the breakdown of certain fats (lipids). Specifically, NTE breaks down a lipid called lysophosphatidylcholine, which is one of several compounds found in the outer membranes surrounding cells. The correct levels of these compounds are critical to the stability of the cell membranes. The NTE protein is found most abundantly in the nervous system. It plays an important role in maintaining the stability of the membranes surrounding nerve cells (neurons) and of these cells' specialized extensions, called axons, that transmit nerve impulses. NTE may also play a role in the release of hormones from the pituitary gland, a process that requires particular changes in the cell membrane and appears to involve the lipids found there. The pituitary gland is located at the base of the brain and produces several hormones, including those that help direct sexual development and growth.

PNPLA6, also known as neuropathy target esterase (NTE), is a phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). Deacylation occurs at both sn-2 and sn-1 positions of PtdCho. PNPLA6 catalyzes the hydrolysis of several naturally occurring membrane-associated lipids, including lysophospholipids and monoacylglycerols, with a preference for the 1-acyl isomer over the 2-acyl isomer. PNPLA6 does not catalyze the hydrolysis of di- or triacylglycerols or fatty acid amides.

PNPLA6 is also known as BNHS, LNMS, NTE, NTEMND, OMCS, SPG39, iPLA2delta, sws.

Associated Diseases

• Oliver-Mcfarlane syndrome
• Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
• Boucher-Neuhauser syndrome
• Laurence-Moon syndrome
• Cerebellar ataxia-hypogonadism syndrome
• Ataxia-hypogonadism-choroidal dystrophy syndrome
• Autosomal recessive spastic paraplegia type 39
• Spastic paraplegia 39, autosomal recessive
• Boucher-Neuhäuser syndrome
• Gordon Holmes syndrome