CFC1

CFC1 is a gene that encodes a member of the epidermal growth factor (EGF)-like family of proteins. This protein plays a crucial role in embryonic development, specifically in the formation of the heart and the craniofacial complex. Mutations in the CFC1 gene have been associated with various congenital heart defects and craniofacial anomalies.

Function

The CFC1 gene encodes a protein known as cripto, which is a member of the EGF-CFC family. This family of proteins is characterized by a unique EGF-like domain and a CFC domain. The cripto protein is a co-receptor for the TGF-beta signaling pathway, which is involved in cell growth and differentiation.

Cripto is essential for early embryonic development. It plays a critical role in gastrulation, a process that forms the three primary germ layers of the embryo. Cripto also regulates the formation of the heart and the craniofacial complex.

Clinical significance

Mutations in the CFC1 gene can lead to a range of congenital anomalies. These include congenital heart defects such as atrioventricular septal defect, ventricular septal defect, and tetralogy of Fallot. Craniofacial anomalies associated with CFC1 mutations include craniosynostosis, cleft lip and palate, and hypertelorism.

Cardiofaciocutaneous syndrome (CFC syndrome) is a rare genetic disorder that is often caused by mutations in the CFC1 gene. This syndrome is characterized by heart defects, distinctive facial features, and skin abnormalities.

See also

• EGF-like domain
• TGF-beta signaling pathway
• Gastrulation
• Congenital heart defect
• Craniosynostosis
• Cardiofaciocutaneous syndrome

References

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