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
CRELD1 Localizations – Subcellular Localization Database