Ellis Van Creveld Syndrome Protein (EVC)

EVC, encodes a 992-amino acid protein with a transmembrane domain, 3 nuclear localization signal, a leucine zipper motif. Northern blot analysis of human adult and fetal tissues detected a 7.0-kb transcript in fetal kidney and lung. In situ hybridization detected low levels of EVC expression in developing bone, heart, kidney, and lung at Carnegie states 19 and 21. In bone, EVC was expressed in the developing vertebral bodies, ribs, and both upper and lower limbs. Expression was higher in the distal limb compared with the proximal limb, an observation that may be related to the limb segments that are most severely affected with the mutant gene. EVC expression in the branching epithelium and surrounding mesenchyme of the lung, metanephros, and atrial and ventricular myocardium, including both atrial and interventricular septa.