Bridge-like lipid transfer protein family member 1 (BLTP1)

Bridge-like lipid transfer protein family member 1 (BLTP1) is a large, tube-forming lipid transfer protein found in eukaryotes, including humans, where it is encoded by the KIAA1109 gene. BLTP1 mediates non-vesicular phospholipid transport at membrane contact sites, especially trafficking lipids from the endoplasmic reticulum to other organelles or the plasma membrane. Its hydrophobic repeating β-groove (RBG) domains enable bulk transfer of lipids, supporting membrane expansion, cell signaling, and adaptation to physiological stress. It plays essential roles in development, lipid homeostasis, and pathways related to cilia structure, endosomal recycling, and phagocytosis. Pathogenic variants in BLTP1 cause Alkuraya-Kucinskas syndrome, a severe neurodevelopmental disorder, and are implicated in other conditions affecting epithelial growth and tumorigenesis. There are currently no drugs directly targeting BLTP1, though its biological importance is increasingly recognized, and supplementation with lipid-rich compounds (such as lecithin) can ameliorate phenotypes in certain disease models

Other names

FSAKIAA1109KIAA1371TweekFLJ21404fragile site-associated proteinAlkuraya-Kučinskas syndrome genebridge-like lipid transfer protein family member 1BLTP1

Not targeted by approved drugs; lecithin (a dietary supplement) has been shown to rescue mutant phenotypes in model organisms, suggesting indirect modulation of BLTP1 function through phospholipid supplementation