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Target intelligence / Profile preview
Patatin-like phospholipase domain-containing protein 1 (PNPLA1)
- Target
- PNPLA1
- Molecular classification
- Enzyme, Patatin-like phospholipase domain-containing protein family, Lipid metabolizing enzyme
01
Overview
Patatin-like phospholipase domain-containing protein 1 (PNPLA1) is an enzyme essential for the final step of acylceramide production in the epidermis, specifically catalyzing the transfer of linoleic acid from triglycerides to omega-hydroxyceramides to form omega-O-acylceramides, which are critical for the development and maintenance of the skin permeability barrier. PNPLA1 is a member of the PNPLA family of lipid metabolizing enzymes characterized by the conserved patatin domain, and its loss-of-function mutations cause congenital ichthyosis with defective epidermal barrier formation. It is not a receptor, transporter, or transcription factor.
- Other names
- PNPLA1Patatin like phospholipase domain containing protein 1PLPL1omega-hydroxyceramide transacylase
02
Mechanism of action
Enzymatic transacylation: catalyzes esterification between ω-hydroxyceramides and linoleic acid, critical for acylceramide production and skin barrier integrity
03
Biological functions
Epidermal omega-O-acylceramide synthesisFormation of the skin permeability barrierLipid metabolism
04
Disease associations
Ichthyosis, congenital (mutations are causative)Disorders of skin barrier function
05
Safety considerations
No notable drug safety concerns reported due to lack of direct inhibitors; genetic disruption causes skin barrier defects
06
Biomarkers
Genetic mutations in PNPLA1 are biomarkers for congenital ichthyosisElevated/deficient acylceramide levels in skin
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