CFC1
MIM.605194 2q21.1
Genes of the EGFs-CFCs family encode extracellular proteins that play key roles in intercellular signaling pathways during vertebrate embryogenesis.
Pathology
germline mutations in
- autosomal visceral heterotaxy (sporadic left-right anomalies) (MIM.605376)
- sporadic double-outlet right ventricle (DORV) (MIM.217095)
- dextro-looped transposition of the great arteries (MIM.608808) associated with intact interventricular septum
See also
CRIPTO (TDGF1) (MIM.187395)
nodal signalling
axial and lateral mesoderm
mouse gastrulation
left-right axis formation
References
Bamford, R. N.; Roessler, E.; Burdine, R. D.; Saplakoglu, U.; dela Cruz, J.; Splitt, M.; Towbin, J.; Bowers, P.; Marino, B.; Schier, A. F.; Shen, M. M.; Muenke, M.; Casey, B. : Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nature Genet. 26: 365-369, 2000. PubMed ID : #11062482#
Goldmuntz, E.; Bamford, R.; Karkera, J. D.; 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: 776-780, 2002. PubMed ID : #11799476#