CFC1, Official Symbol CFC1provided by HGNC Official Full Name cryptic, EGF-CFC family member 1provided by HGNC Primary source HGNC:HGNC:18292 See related Ensembl:ENSG00000136698 MIM:605194; AllianceGenome:HGNC:18292 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HTX2; CFC1B; DTGA2; CRYPTIC Summary 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] Expression Biased expression in stomach (RPKM 2.7), prostate (RPKM 2.2) and 3 other tissues See more Orthologs all