PNPLA6
Function
Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Catalyzes the hydrolysis of several naturally occurring membrane-associated lipids (PubMed:11927584). Hydrolyzes lysophospholipids and monoacylglycerols, preferring the 1-acyl to the 2-acyl isomer. Does not catalyze hydrolysis of di- or triacylglycerols or fatty acid amides (PubMed:11927584).
Involvement in disease
Spastic paraplegia 39, autosomal recessive
SPG39
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG39 is associated with a motor axonopathy affecting upper and lower limbs and resulting in progressive wasting of distal upper and lower extremity muscles.
None
The disease is caused by variants affecting the gene represented in this entry.
Boucher-Neuhauser syndrome
BNHS
An autosomal recessive disorder characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop 1 or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present.
None
The disease is caused by variants affecting the gene represented in this entry.
Laurence-Moon syndrome
LNMS
An autosomal recessive syndrome characterized by progressive spinocerebellar degeneration, spastic paraplegia, intellectual disability, hypogonadism, dwarfism, and chorioretinopathy. Trichomegaly is absent.
None
The disease is caused by variants affecting the gene represented in this entry.
Oliver-McFarlane syndrome
OMCS
A rare autosomal recessive, congenital syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies. It results in intellectual impairment and dwarfism, if untreated. Clinical features include hypogonadotropic hypogonadism during puberty, pigmentary retinal degeneration, ataxia, spastic paraplegia, and peripheral neuropathy.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Glycosylated.
Sequence Similarities
Belongs to the NTE family.
Tissue Specificity
Expressed in brain, placenta, kidney, neuron and skeletal muscle. Expressed in the developing eye, pituitary and brain.
Cellular localization
- Endoplasmic reticulum membrane
- Single-pass type III membrane protein
Alternative names
NTE, PNPLA6, Patatin-like phospholipase domain-containing protein 6, Neuropathy target esterase