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Cryptic family protein 1 (CFC1)
- Target
- CFC1
- Molecular classification
- Other (EGF-CFC protein family, extracellular membrane-associated co-receptor)
01
Overview
Cryptic family protein 1 (CFC1) is an extracellular membrane-associated glycoprotein and a member of the epidermal growth factor (EGF)-Cripto/Frl-1/Cryptic (CFC) protein family. CFC1 serves as a co-receptor for Nodal-related signaling, which is essential for left-right (L-R) patterning during embryonic development and plays a key role in mesoderm and/or neural patterning during gastrulation. Mutations in CFC1 have been strongly linked to congenital heart abnormalities, including visceral heterotaxy and defects in great artery formation. CFC1 is not a common direct therapeutic target or receptor exploited in pharmacology; rather, it is primarily relevant as an essential developmental protein whose mutation causes congenital syndromes.
- Other names
- Cryptic proteinCRYPTICCFC1BDTGA2HTX2criptoFRL-1cryptic family 1cryptic family protein 1EGF-CFC family member 1AV265756b2b970Clo
02
Biological functions
Embryonic patterningLeft-right axis specificationSignal transduction (Nodal signaling pathway)Mesoderm and/or neural patterning during gastrulation
03
Disease associations
Congenital heart diseaseVisceral heterotaxy (heterotaxy syndrome)Organ laterality defects
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