BLTP1 is a bridge-like lipid transfer protein that mediates non-vesicular phospholipid transport between the endoplasmic reticulum (ER) and target membranes through membrane contact sites 1. The protein forms a hydrophobic tunnel with repeating β-groove domains that facilitate bulk lipid trafficking 2. BLTP1 provides phosphatidylethanolamine for GPI anchor synthesis in the ER and regulates endosomal trafficking, actin cytoskeleton dynamics, and phagocytosis [UniProt references]. Functionally, BLTP1 is essential for establishing ER-plasma membrane junctions critical for lipid exchange and maintaining proper phospholipid distribution 32. BLTP1 operates in complex with TMEM170 lipid scramblases to accomplish efficient lipid transport 4. Clinically, BLTP1 mutations cause Alkuraya-Kučinskas syndrome (AKS), an autosomal recessive multisystem disorder featuring severe brain malformations (brainstem dysgenesis, cerebellar hypoplasia, ventriculomegaly), arthrogryposis, and joint contractures in 90% of cases 5. BLTP1 knockout mice exhibit perinatal lethality with defective neuromuscular junction development and impaired synaptic transmission 6. Notably, phospholipid supplementation with lecithin partially rescues neuromuscular nerve growth defects in BLTP1-deficient mice, suggesting potential therapeutic benefit for AKS patients 6.