This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]

  • Endocardial cushion development
  • Cardiac septum development
  • Atrioventricular septal defect 2
  • Partial atrioventricular canal
  • Atrioventricular septal defect
  • Complete atrioventricular septal defect-tetralogy of fallot
  • Complete atrioventricular septal defect with ventricular hypoplasia

Gene Location