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].
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Bianco, Strizzi, Ebert, Chang, Rehman, Normanno, Guedez, Salloum, Ginsburg, Sun, Khan, Hirota, Wallace-Jones, Wechselberger, Vonderhaar, Tosato, Stetler-Stevenson, Sanicola, Salomon: "Role of human cripto-1 in tumor angiogenesis." dans: Journal of the National Cancer Institute, Vol. 97, Issue 2, pp. 132-41, (2005) (PubMed).
Synonymes et noms alternatifs relatifs à CFC1
cryptic family protein 1B (LOC459608), cripto, FRL-1, cryptic family 1 (Cfc1), cripto, FRL-1, cryptic family 1 (CFC1), teratocarcinoma-derived growth factor 1, member 3 (tdgf1.3), AV265756, b2b970Clo, cfc1, CFC1, CFC1B, cr1, cripto, Cripto-1, CRYPTIC, cryptic, DTGA2, FRL-1, frl1, HTX2, RGD1562188, tdgf1, xcr1