CFC1B/CFC1 polyclonal antibody

Cryptic is a 224 amino acid member of the epidermal growth factor-Cripto-1/ FRL1/cryptic family that consists of extracellular and cell-associated proteins which function as co-receptors for the transforming growth factor b subfamily of proteins. Cryptic is involved in the appropriate establishment of the left-right axis of the organism, and it may play a role in the development of mesoderm and/or neural patterning during gastrulation. Loss-of-function mutations in CFC1, the gene encoding for Cryptic, are associated with human left-right laterality defects. Defects in CFC1 also cause visceral heterotaxy (HTX2), an autosomal disease characterized by a variable group of congenital anomalies that include complex cardiac malformations such as conotruncal heart malformations that may lead to cardiac outflow tract defects, pulmonary atresia, double-outlet right ventricle, truncus arteriosus communis and aortic arch anomalies.