PNPLA6 (Patatin-Like Phospholipase 6) is an enzyme with phospholipase activity linked to neurodegeneration and lysosomal storage disorders. This gene plays important roles in the nervous system and has been implicated in various aspects of neurodegenerative disease pathogenesis.
| PNPLA6 Gene | |
|---|---|
| Gene Symbol | PNPLA6 |
| Full Name | Patatin-like Phospholipase Domain Containing 6 |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 10908 |
| OMIM | 603649 |
| Ensembl ID | ENSG00000118640 |
| UniProt ID | Q8IY84 |
| Associated Diseases | Spastic Paraplegia 39, Gordon Holmes Syndrome, Boucher-Neuhauser Syndrome, Oliver-McFarlane Syndrome |
PNPLA6 encodes a patatin-like phospholipase domain-containing protein, also known as neuropathy target esterase (NTE). PNPLA6 has phospholipase activity and is involved in lipid metabolism. It is essential for neuronal survival and is particularly important in the maintenance of long axons. PNPLA6 hydrolyzes organophosphates and is the target of certain neurotoxic compounds.
| Disease | Inheritance | Pathogenic Variants | Mechanism |
|---|---|---|---|
| Spastic Paraplegia 39 (SPG39) | Autosomal Recessive | Missense, frameshift | Loss of function leads to axonal degeneration |
| Gordon Holmes Syndrome | Autosomal Recessive | Various | Hypogonadotropic hypogonadism + spastic paraplegia |
| Boucher-Neuhauser Syndrome | Autosomal Recessive | Various | Ataxia, hypogonadism, chorioretinal dystrophy |
| Oliver-McFarlane Syndrome | Autosomal Recessive | Various | Trichomegaly, retinal degeneration, spastic paraplegia |
PNPLA6 is expressed in: