CFC1
Description
The CFC1 (cryptic, EGF-CFC family member 1) is a protein-coding gene located on chromosome 2.
CFC1, also known as Cryptic family member 1, is a protein encoded by the CFC1 gene in humans. It is a member of the epidermal growth factor (EGF)-Cripto, Frl-1, and Cryptic (CFC) family, which are involved in signaling during embryonic development. These proteins share a modified EGF-like motif, a conserved cysteine-rich domain, and a C-terminal hydrophobic region. CFC1 is located on chromosome 2 and is essential for patterning the left-right embryonic axis. Mutations in CFC1 are associated with defects in organ development, including autosomal visceral heterotaxy and congenital heart disease. Multiple isoforms of CFC1 have been observed due to alternative splicing of its transcript.
CFC1, a NODAL coreceptor, is crucial for the proper establishment of the left-right axis during embryonic development. It may also contribute to mesoderm and neural patterning during gastrulation.
CFC1 is also known as CFC1B, CRYPTIC, DTGA2, HTX2.
