PNPLA6
Patatin-like phospholipase domain-containing protein 6; neuropathy target esterase
Gene Information Card
| Symbol | PNPLA6 |
|---|---|
| Full Name | Patatin-like phospholipase domain containing 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 10908 ncbi.nlm.nih.gov/gene/10908 |
| Ensembl ID | ENSG00000032444 |
| UniProt ID | Q8IY17 |
| OMIM ID | 603197 |
| HGNC ID | 16268 |
| Aliases | NTE, SPG39, BNHS, LNMS, iPLA2delta |
Description
PNPLA6 encodes neuropathy target esterase (NTE), a patatin-like phospholipase that catalyzes the deacylation of phosphatidylcholine to glycerophosphocholine. NTE is essential for neuronal membrane homeostasis and axon maintenance. Mutations in PNPLA6 cause a spectrum of neurodegenerative disorders including hereditary spastic paraplegia type 39 (SPG39), Boucher-Neuhäuser syndrome, and Gordon Holmes syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia 39 (SPG39) | Loss-of-function mutations impair phospholipid metabolism, leading to axonal degeneration | OMIM #612020 |
| Boucher-Neuhäuser syndrome | Biallelic PNPLA6 variants disrupt cerebellar and retinal development | OMIM #215470 |
| Gordon Holmes syndrome | PNPLA6 mutations cause hypogonadotropic hypogonadism and cerebellar ataxia | OMIM #212840 |
| Laurence-Moon syndrome | PNPLA6 variants associated with spastic paraplegia and retinal degeneration | OMIM #245800 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Spinal cord | 8.3 | Medium |
| Testis | 6.1 | Medium |
| Retina | 5.8 | Medium |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 14.2 | Neuronal cell line |
| HeLa | 3.5 | Cervical carcinoma |
| HEK293 | 2.8 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2935C>T (p.Arg979Ter) | Nonsense | Rare | Loss of function; associated with SPG39 |
| c.3199G>A (p.Glu1067Lys) | Missense | Rare | Impaired phospholipase activity; Boucher-Neuhäuser syndrome |
| c.3349G>A (p.Gly1117Arg) | Missense | Rare | Dominant negative effect; Gordon Holmes syndrome |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated NTE protein; cause SPG39 and Boucher-Neuhäuser syndrome.
Gain of Function (GOF)
Not reported for PNPLA6.
Dominant Negative (DN)
Missense mutations (e.g., p.Gly1117Arg) that disrupt NTE dimerization or catalytic activity; associated with Gordon Holmes syndrome.
View complete mutation data：
Gene Ontology (GO)
| • phospholipase activity | • lysophospholipase activity |
| • phosphatidylcholine metabolic process | • axon development |
| • endoplasmic reticulum membrane |
Pathways
• Phospholipid metabolism
• Glycerophospholipid biosynthesis
Protein Summary
PNPLA6 encodes neuropathy target esterase (NTE), a 1375-amino acid transmembrane protein localized to the endoplasmic reticulum. NTE contains a patatin-like phospholipase domain that hydrolyzes phosphatidylcholine. It is highly expressed in neurons and is critical for maintaining axonal integrity. Mutations lead to impaired membrane trafficking and neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PNPLA6 Knockout HEK293 Cell Line | EDJ-KQ3824 | Human | 10908 | Details Get a Quote |
| PNPLA6 Knockout A-549 Cell Line | EDJ-KQ25967 | Human | 10908 | Details Get a Quote |
| PNPLA6 Knockout HCT 116 Cell Line | EDJ-KQ25968 | Human | 10908 | Details Get a Quote |
| PNPLA6 Knockout HeLa Cell Line | EDJ-KQ25969 | Human | 10908 | Details Get a Quote |
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