CFC1 gene

cripto, FRL-1, cryptic family 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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

Covered on Genetics Home Reference:

From NCBI Gene:

  • Conotruncal heart malformations
  • Heterotaxy, visceral, 2, autosomal

From UniProt:

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 been associated with variety of congenital defects including cardiac malformations. [MIM:605376]

Cytogenetic Location: 2q21.1, which is the long (q) arm of chromosome 2 at position 21.1

Molecular Location: base pairs 130,592,165 to 130,599,575 on chromosome 2 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 2q21.1, which is the long (q) arm of chromosome 2 at position 21.1
  • CFC1B
  • DTGA2
  • HTX2