Synonyms: Atrioventricular septal defect 2,AVSD2,CIRRIN,CREL1,CRELD1,Cysteine rich with EGF like domains 1,Cysteine-rich with EGF-like domain protein 1,DKFZP566D213
Background: 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.