2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
12PubMed Papers
13Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
protein phosphatase type 1 complexprotein phosphatase 1 binding[phosphorylase] phosphatase activityglycogen bindingneurodegenerative diseaseneuroinflammatory disorderhyperpituitarismhepatocellular carcinoma
Based on limited published evidence, PPP1R3E encodes a glycogen-targeting regulatory subunit of protein phosphatase 1 (PP1) involved in glycogen metabolism. It binds glycogen and directs PP1 to dephosphorylate and activate glycogen synthase, promoting glycogen synthesis 1. PPP1R3E expression is insulin-regulated and downregulated in diabetes, with species-specific tissue distribution differences between humans and rodents 1. Recent genetic studies identified PPP1R3E as a candidate autosomal recessive gene in Parkinson's disease families 2, though the mechanistic relationship between PPP1R3E dysfunction and neurodegeneration remains unclear.
1
PPP1R3E is a glycogen-targeting subunit of PP1 that promotes glycogen synthesis through activation of glycogen synthase; insulin-regulated and differentially expressed across tissues in humans versus rodents
PMID: 157523632
PPP1R3E identified as a candidate autosomal recessive gene in Parkinson's disease through homozygous loss-of-function variants in AR-PD families
PMID: 40959972β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
neurodegenerative diseaseOpen Targets
neuroinflammatory disorderOpen Targets
hyperpituitarismOpen Targets
hepatocellular carcinomaOpen Targets
non-alcoholic fatty liver diseaseOpen Targets
Alzheimer diseaseOpen Targets
interstitial lung diseaseOpen Targets
gastric adenocarcinomaOpen Targets
Insulin resistanceOpen Targets
oligodendrogliomaOpen Targets
chronic obstructive pulmonary diseaseOpen Targets
No pathogenic variants reported on ClinVar for this gene.