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].
Stadler, Rexhepaj, Singan, Murphy, Pepperkok, Uhlén, Simpson, Lundberg: "Immunofluorescence and fluorescent-protein tagging show high correlation for protein localization in mammalian cells." in: Nature methods, Vol. 10, Issue 4, pp. 315-23, (2013) (PubMed).
Aliases for CRELD1 抗体
cysteine rich with EGF like domains 1 (CRELD1) 抗体 cysteine-rich with EGF-like domains 1 (Creld1) 抗体 AI843811 抗体 AVSD2 抗体 CIRRIN 抗体