Cryptic protein explained

Cryptic protein, also cryptic family member 1 is a protein that in humans is encoded by the CFC1 gene.^{[1] [2]}

Function

CFC1 is located on chromosome 2 and 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

• Goldmuntz E, Bamford R, Karkera JD, dela Cruz J, Roessler E, Muenke M . CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle . Am. J. Hum. Genet. . 70 . 3 . 776–80 . 2002 . 11799476 . 384955 . 10.1086/339079 .
• Ozcelik C, Bit-Avragim N, Panek A, Gaio U, Geier C, Lange PE, Dietz R, Posch MG, Perrot A, Stiller B . Mutations in the EGF-CFC gene cryptic are an infrequent cause of congenital heart disease . Pediatr Cardiol . 27 . 6 . 695–8 . 2006 . 17072672 . 10.1007/s00246-006-1082-0 . 19526943 .
• Selamet Tierney ES, Marans Z, Rutkin MB, Chung WK . Variants of the CFC1 gene in patients with laterality defects associated with congenital cardiac disease . Cardiol Young . 17 . 3 . 268–74 . 2007 . 17445335 . 10.1017/S1047951107000455 . 22139149 .
• Davit-Spraul A, Baussan C, Hermeziu B, Bernard O, Jacquemin E . CFC1 gene involvement in biliary atresia with polysplenia syndrome . J. Pediatr. Gastroenterol. Nutr. . 46 . 1 . 111–2 . 2008 . 18162845 . 10.1097/01.mpg.0000304465.60788.f4 . 12993312 . free .
• Watanabe K, Nagaoka T, Strizzi L, Mancino M, Gonzales M, Bianco C, Salomon DS . Characterization of the glycosylphosphatidylinositol-anchor signal sequence of human Cryptic with a hydrophilic extension . Biochim. Biophys. Acta . 1778 . 12 . 2671–81 . 2008 . 18930707 . 3385650 . 10.1016/j.bbamem.2008.09.011 .
• Wang B, Wang J, Liu S, Han X, Xie X, Tao Y, Yan J, Ma X . CFC1 mutations in Chinese children with congenital heart disease . Int. J. Cardiol. . 146 . 1 . 86–8 . 2011 . 19853937 . 10.1016/j.ijcard.2009.07.034 .
• Wang B, Wang J, Liu S, Han X, Xie X, Tao Y, Yan J, Ma X . CFC1 mutations in Chinese children with congenital heart disease . Int. J. Cardiol. . 146 . 1 . 86–8 . 2011 . 19853937 . 10.1016/j.ijcard.2009.07.034 .
• Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, Weinberg CR, Christensen K, Boyles AL, Daack-Hirsch S, Nguyen TT, Christiansen L, Lidral AC, Murray JC . 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 . 20634891 . 2901336 . 10.1371/journal.pone.0011493 . 2010PLoSO...511493J . free .
• Cao R, Long F, Wang L, Xu Y, Guo Y, Li F, Chen S, Sun K, Xu R . Duplication and deletion of CFC1 associated with heterotaxy syndrome . DNA Cell Biol. . 34 . 2 . 101–6 . 2015 . 25423076 . 4308825 . 10.1089/dna.2014.2616 .

Notes and References

1. Web site: UniProt . www.uniprot.org . 19 December 2022.
2. Web site: Entrez Gene: Cripto, FRL-1, cryptic family 1. 2017-05-19.