CFC1

This gene encodes a member of the epidermal growth factor (EGF)- Cripto, Frl-1, and Cryptic (CFC) family. EGF-CFC family member proteins share a variant EGF-like motif, a conserved cysteine-rich domain, and a C-terminal hydrophobic region. These proteins play key roles in intercellular signaling pathways during vertebrate embryogenesis. Mutations in this gene can cause autosomal visceral heterotaxy. This protein is involved in left-right asymmetric morphogenesis during organ development. [provided by RefSeq]

Full Name

cripto, FRL-1, cryptic family 1

Function

NODAL coreceptor involved in the correct establishment of the left-right axis. May play a role in mesoderm and/or neural patterning during gastrulation.

Biological Process

Anatomical structure development Source: GO_Central
Anterior/posterior pattern specification Source: GO_Central
Blood vessel development Source: GO_Central
Determination of left/right symmetry Source: GO_Central
Gastrulation Source: UniProtKB-KW
Heart development Source: GO_Central
Nodal signaling pathway Source: UniProtKB

Cellular Location

Cell membrane; Secreted. Does not exhibit a typical GPI-signal sequence. The C-ter hydrophilic extension of the GPI-signal sequence reduces the efficiency of processing and could lead to the production of an secreted unprocessed form. This extension is found only in primates.

Involvement in disease

Heterotaxy, visceral, 2, autosomal (HTX2): A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations.

PTM

N-glycosylated.