2 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GPI anchor phospholipase C activityplasma membraneglycerophosphodiester phosphodiesterase activitymembranethyroid diseasecorneal edemamultinodular goiterjoint disease
GDPD4 is a glycerophosphodiester phosphodiesterase domain-containing protein localized to the plasma membrane with GPI anchor phospholipase C activity and glycerophosphodiester phosphodiesterase activity. Based on limited published evidence, GDPD4 is not essential for male fertility, as Gdpd4 knockout mice remain fertile 1. A rare variant in GDPD4 was identified in exome sequencing of a Thai family with obesity and may contribute to complex metabolic traits 2.
1
Gdpd4 knockout mice are fertile, indicating the gene is not essential for male reproductive function
PMID: 314557292
GDPD4 harbors a rare deleterious variant potentially associated with obesity in Thai families
PMID: 27421018⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
thyroid diseaseOpen Targets
corneal edemaOpen Targets
multinodular goiterOpen Targets
joint diseaseOpen Targets
musculoskeletal system diseaseOpen Targets
ocular hypotensionOpen Targets
autosomal dominant nonsyndromic hearing lossOpen Targets
hearing loss, autosomal recessiveOpen Targets
retinitis pigmentosa-deafness syndromeOpen Targets
gastric cancerOpen Targets
prostate cancerOpen Targets
breast cancerOpen Targets
cervical squamous cell carcinomaOpen Targets
esophageal squamous cell carcinomaOpen Targets
embryonal neoplasmOpen Targets
No pathogenic variants reported on ClinVar for this gene.