Aliases for CFC1 Gene
External Ids for CFC1 Gene
Previous HGNC Symbols for CFC1 Gene
Previous GeneCards Identifiers for CFC1 Gene
This gene encodes a member of the epidermal growth factor (EGF)- Cripto, Frl-1, and Cryptic (CFC) family, which are involved in signalling during embryonic development. Proteins in this family share a variant EGF-like motif, a conserved cysteine-rich domain, and a C-terminal hydrophobic region. The protein encoded by this gene is necessary for patterning the left-right embryonic axis. Mutations in this gene are associated with defects in organ development, including autosomal visceral heterotaxy and congenital heart disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
GeneCards Summary for CFC1 Gene
CFC1 (Cripto, FRL-1, Cryptic Family 1) is a Protein Coding gene. Diseases associated with CFC1 include Heterotaxy, Visceral, 2, Autosomal and Cfc1-Related Visceral Heterotaxy. Among its related pathways are Human Embryonic Stem Cell Pluripotency and Signaling by NODAL. GO annotations related to this gene include nodal binding. An important paralog of this gene is CFC1B.
UniProtKB/Swiss-Prot for CFC1 Gene
NODAL coreceptor involved in the correct establishment of the left-right axis. May play a role in mesoderm and/or neural patterning during gastrulation.