BTBD8 (BTB domain containing 8) is a protein containing double BTB/POZ domains, evolutionarily conserved motifs involved in protein-protein interactions 1. The gene shows weak expression in adult brain and prostate but abundant expression in fetal brain, suggesting a role in brain development 1. BTBD8 is associated with monocyte count regulation in blood cell traits, with a rare missense variant identified across European, African American, and Hispanic populations 2. Recent multi-ancestry exome studies have identified variants in BTBD8 enriched among the Amish population as study-wide significantly associated with Alzheimer's disease protection (rs927193859, p = 1.58 × 10⁻¹⁰) 3. Additionally, BTBD8 has been implicated in malignant meningioma progression, with differential expression between benign and malignant tumors identified through transcriptome analysis 4. While UniProt annotations suggest involvement in clathrin-mediated endocytosis and synaptic vesicle recycling, the provided abstracts do not directly support these synaptic functions. BTBD8's primary characterized roles involve immune cell regulation and neurological disease susceptibility.