Identity
HGNC
LOCATION
6p21.31
LOCUSID
ALIAS
ARCI10,dJ50J22.1
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: 285848
MIM: 612121
HGNC: 21246
Ensembl: ENSG00000180316
Variants:
dbSNP: 285848
ClinVar: 285848
TCGA: ENSG00000180316
COSMIC: PNPLA1
RNA/Proteins
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37458571 | 2023 | Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions. | 0 |
| 37458571 | 2023 | Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions. | 0 |
| 35970721 | 2022 | Impaired production of skin barrier lipid acylceramides and abnormal localization of PNPLA1 due to ichthyosis-causing mutations in PNPLA1. | 1 |
| 35970721 | 2022 | Impaired production of skin barrier lipid acylceramides and abnormal localization of PNPLA1 due to ichthyosis-causing mutations in PNPLA1. | 1 |
| 31833240 | 2020 | Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis. | 3 |
| 31864761 | 2020 | Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor from atopic dermatitis. | 1 |
| 31833240 | 2020 | Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis. | 3 |
| 31864761 | 2020 | Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor from atopic dermatitis. | 1 |
| 30655104 | 2019 | Impairment of lipophagy by PNPLA1 mutations causes lipid droplet accumulation in primary fibroblasts of Autosomal Recessive Congenital Ichthyosis patients. | 6 |
| 31120544 | 2019 | Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect. | 4 |
| 30655104 | 2019 | Impairment of lipophagy by PNPLA1 mutations causes lipid droplet accumulation in primary fibroblasts of Autosomal Recessive Congenital Ichthyosis patients. | 6 |
| 31120544 | 2019 | Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect. | 4 |
| 28983987 | 2018 | Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis. | 5 |
| 29023646 | 2018 | Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects. | 3 |
| 30527376 | 2018 | Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome: Stimulation of PNPLA1-catalyzed ω-O-acylceramide production by ABHD5. | 27 |
Citation
Dessen P
PNPLA1 (patatin like phospholipase domain containing 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54547/pnpla1-(patatin-like-phospholipase-domain-containing-1)
