Biology:CFC1

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

Cryptic protein, also cryptic family member 1 is a protein that in humans is encoded by the CFC1 gene.

Function

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.

Further reading

• "CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle". Am. J. Hum. Genet. 70 (3): 776–80. 2002. doi:10.1086/339079. PMID 11799476. 
• "Mutations in the EGF-CFC gene cryptic are an infrequent cause of congenital heart disease". Pediatr Cardiol 27 (6): 695–8. 2006. doi:10.1007/s00246-006-1082-0. PMID 17072672. 
• "Variants of the CFC1 gene in patients with laterality defects associated with congenital cardiac disease". Cardiol Young 17 (3): 268–74. 2007. doi:10.1017/S1047951107000455. PMID 17445335. 
• "CFC1 gene involvement in biliary atresia with polysplenia syndrome". J. Pediatr. Gastroenterol. Nutr. 46 (1): 111–2. 2008. doi:10.1097/01.mpg.0000304465.60788.f4. PMID 18162845. 
• "Characterization of the glycosylphosphatidylinositol-anchor signal sequence of human Cryptic with a hydrophilic extension". Biochim. Biophys. Acta 1778 (12): 2671–81. 2008. doi:10.1016/j.bbamem.2008.09.011. PMID 18930707. 
• "CFC1 mutations in Chinese children with congenital heart disease". Int. J. Cardiol. 146 (1): 86–8. 2011. doi:10.1016/j.ijcard.2009.07.034. PMID 19853937. 
• "CFC1 mutations in Chinese children with congenital heart disease". Int. J. Cardiol. 146 (1): 86–8. 2011. doi:10.1016/j.ijcard.2009.07.034. PMID 19853937. 
• "Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia". PLOS ONE 5 (7): e11493. 2010. doi:10.1371/journal.pone.0011493. PMID 20634891. Bibcode: 2010PLoSO...511493J. 
• "Duplication and deletion of CFC1 associated with heterotaxy syndrome". DNA Cell Biol. 34 (2): 101–6. 2015. doi:10.1089/dna.2014.2616. PMID 25423076. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.