The ATP-binding cassette transporter A1 (ABCA1) is a cholesterol and phospholipid transporter, and mutations in ABCA1 cause Tangier disease (TD) [1–3], a rare disorder characterized by reduced levels of plasma high density lipoprotein (HDL) cholesterol and increased risk for coronary artery disease [4]. The gene discussed is ABCA1; the disease is thanatophoric dysplasia.