基因名:
CRELD1
产品别名:
AVSD2; CIRRIN; CRELD1; cysteine rich with EGF like domains 1; cysteine rich with EGF like domains 1; protein disulfide isomerase CRELD1; EGF样域半胱氨酸丰富蛋白1(CRELD1); 富含半胱氨酸与表皮生长因子样蛋白1;
背景信息:
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]