Cryptic protein

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.

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• {{cite journal |vauthors=Goldmuntz E, Bamford R, Karkera JD, dela Cruz J, Roessler E, Muenke M |title=CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle |journal=Am. J. Hum. Genet. |volume=70 |issue=3 |pages=776–80 |year=2002 |pmid=11799476 |pmc=384955 |doi=10.1086/339079 }}
• {{cite journal |vauthors=Ozcelik C, Bit-Avragim N, Panek A, Gaio U, Geier C, Lange PE, Dietz R, Posch MG, Perrot A, Stiller B |title=Mutations in the EGF-CFC gene cryptic are an infrequent cause of congenital heart disease |journal=Pediatr Cardiol |volume=27 |issue=6 |pages=695–8 |year=2006 |pmid=17072672 |doi=10.1007/s00246-006-1082-0 |s2cid=19526943 }}
• {{cite journal |vauthors=Selamet Tierney ES, Marans Z, Rutkin MB, Chung WK |title=Variants of the CFC1 gene in patients with laterality defects associated with congenital cardiac disease |journal=Cardiol Young |volume=17 |issue=3 |pages=268–74 |year=2007 |pmid=17445335 |doi=10.1017/S1047951107000455 |s2cid=22139149 }}
• {{cite journal |vauthors=Davit-Spraul A, Baussan C, Hermeziu B, Bernard O, Jacquemin E |title=CFC1 gene involvement in biliary atresia with polysplenia syndrome |journal=J. Pediatr. Gastroenterol. Nutr. |volume=46 |issue=1 |pages=111–2 |year=2008 |pmid=18162845 |doi=10.1097/01.mpg.0000304465.60788.f4 |s2cid=12993312 |doi-access=free }}
• {{cite journal |vauthors=Watanabe K, Nagaoka T, Strizzi L, Mancino M, Gonzales M, Bianco C, Salomon DS |title=Characterization of the glycosylphosphatidylinositol-anchor signal sequence of human Cryptic with a hydrophilic extension |journal=Biochim. Biophys. Acta |volume=1778 |issue=12 |pages=2671–81 |year=2008 |pmid=18930707 |pmc=3385650 |doi=10.1016/j.bbamem.2008.09.011 }}
• {{cite journal |vauthors=Wang B, Wang J, Liu S, Han X, Xie X, Tao Y, Yan J, Ma X |title=CFC1 mutations in Chinese children with congenital heart disease |journal=Int. J. Cardiol. |volume=146 |issue=1 |pages=86–8 |year=2011 |pmid=19853937 |doi=10.1016/j.ijcard.2009.07.034 }}
• {{cite journal |vauthors=Wang B, Wang J, Liu S, Han X, Xie X, Tao Y, Yan J, Ma X |title=CFC1 mutations in Chinese children with congenital heart disease |journal=Int. J. Cardiol. |volume=146 |issue=1 |pages=86–8 |year=2011 |pmid=19853937 |doi=10.1016/j.ijcard.2009.07.034 }}
• {{cite journal |vauthors=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 |title=Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia |journal=PLOS ONE |volume=5 |issue=7 |pages=e11493 |year=2010 |pmid=20634891 |pmc=2901336 |doi=10.1371/journal.pone.0011493 |bibcode=2010PLoSO...511493J |doi-access=free }}
• {{cite journal |vauthors=Cao R, Long F, Wang L, Xu Y, Guo Y, Li F, Chen S, Sun K, Xu R |title=Duplication and deletion of CFC1 associated with heterotaxy syndrome |journal=DNA Cell Biol. |volume=34 |issue=2 |pages=101–6 |year=2015 |pmid=25423076 |pmc=4308825 |doi=10.1089/dna.2014.2616 }}

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Category:Human proteins

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Category:Embryology