CFC1

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]

Description

Cripto, FRL-1, cryptic family 1

Tissue specificity

Tissue enhanced (brain, pancreas, pituitary gland)

Predicted location

Secreted - unknown location

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted secreted proteins

Chromosome

2 (130592165 - 130599575)

Ensembl ID

ENSG00000136698  (ver. 103.38)

Orthologs

-

UniProt

P0CG37

neXtProt

NX_P0CG37

Human splice variants

Protein structure