Identity
HGNC
LOCATION
19p13.2
LOCUSID
ALIAS
BNHS,LNMS,NTE,NTEMND,OMCS,SPG39,iPLA2delta,sws
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10908
MIM: 603197
HGNC: 16268
Ensembl: ENSG00000032444
Variants:
dbSNP: 10908
ClinVar: 10908
TCGA: ENSG00000032444
COSMIC: PNPLA6
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38683245 | 2024 | Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia. | 0 |
| 38735647 | 2024 | Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders. | 0 |
| 38683245 | 2024 | Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia. | 0 |
| 38735647 | 2024 | Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders. | 0 |
| 36336212 | 2023 | The alteration of the expression level of neuropathy target esterase in human neuroblastoma SK-N-SH cells disrupts cellular phospholipids homeostasis. | 2 |
| 36336212 | 2023 | The alteration of the expression level of neuropathy target esterase in human neuroblastoma SK-N-SH cells disrupts cellular phospholipids homeostasis. | 2 |
| 30015775 | 2021 | CHORIORETINAL CHANGES IN A GENETICALLY CONFIRMED CASE OF BOUCHER-NEUHÄUSER SYNDROME. | 5 |
| 33141049 | 2021 | Novel variants in PNPLA6 causing syndromic retinal dystrophy. | 8 |
| 33184906 | 2021 | Reduced neuropathy target esterase in pre-eclampsia suppresses tube formation of HUVECs via dysregulation of phospholipid metabolism. | 1 |
| 33210227 | 2021 | A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia. | 9 |
| 33650466 | 2021 | Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene. | 5 |
| 33818269 | 2021 | Oliver McFarlane syndrome: two new cases and a review of the literature. | 5 |
| 30015775 | 2021 | CHORIORETINAL CHANGES IN A GENETICALLY CONFIRMED CASE OF BOUCHER-NEUHÄUSER SYNDROME. | 5 |
| 33141049 | 2021 | Novel variants in PNPLA6 causing syndromic retinal dystrophy. | 8 |
| 33184906 | 2021 | Reduced neuropathy target esterase in pre-eclampsia suppresses tube formation of HUVECs via dysregulation of phospholipid metabolism. | 1 |
Citation
Dessen P
PNPLA6 (patatin like phospholipase domain containing 6)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56457/pnpla6-(patatin-like-phospholipase-domain-containing-6)
