ABCC6 encodes an ATP-binding cassette transporter primarily expressed in hepatocytes that mediates efflux of ATP across cell membranes 1. The protein functions as an active transporter involved in cellular compound export to the extracellular environment 2. Loss-of-function mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), an autosomal recessive multisystem ectopic mineralization disorder 3. The disease mechanism involves reduced circulating inorganic pyrophosphate (PPi), a critical anti-mineralization factor, resulting from decreased ATP release by hepatocytes with mutant ABCC6 13. This leads to pathological calcification of elastic fibers in skin, cardiovascular system, and eyes 3. Ocular manifestations include calcification of Bruch's membrane causing angioid streaks, peau d'orange, and potentially secondary macular neovascularization and blindness 1. Cardiovascular complications include arterial calcification, peripheral artery disease, myocardial infarction, and ischemic stroke 3. Over 300 ABCC6 sequence variants have been identified, with interpretation of pathogenicity requiring functional characterization beyond bioinformatic prediction 4. Clinical management focuses on symptomatic treatment including vascular endothelial growth factor inhibitors for ocular manifestations and lifestyle modifications, with emerging approaches including gene therapy and pharmacologic chaperone therapy 3.