VWA7 (von Willebrand factor A domain containing 7) is a poorly characterized protein with emerging evidence suggesting phospholipase C activity. Recent structural analysis indicates VWA7 functions as a putative phosphatidylcholine-specific phospholipase C (pc-PLC), with the N-terminal region demonstrating high structural similarity to bacterial pc-PLC and a conserved active site architecture 1. Recombinant VWA7 variants expressed in bacteria exhibited confirmed pc-PLC enzymatic activity, with optimal variants reaching 733 mU/mg 1. VWA7 has been associated with multiple disease phenotypes through genetic studies. DNA methylation at the VWA7 locus (cg22112841) was identified as associated with lifetime cannabis use disorder in a veteran cohort enriched for posttraumatic stress disorder 2. Additionally, VWA7 was enriched for rare variants in papillary thyroid carcinoma patients and associated with PTC predisposition risk 3. Genome-wide association studies in Arab populations revealed suggestive associations between VWA7 variants and elevated fasting plasma glucose, a key metabolic trait in type 2 diabetes 4. Despite these genetic associations across multiple disease contexts, the physiological role of VWA7 and mechanisms linking its pc-PLC activity to disease pathogenesis remain poorly understood and require further investigation.
No tissue expression data available for this gene.