CFC1

Also known as cripto, FRL-1, cryptic family 1, AV265756, b2b970Clo, cryptic, CFC1B, DTGA2, HTX2

protein-coding gene in the species Homo sapiens

In the Vinony graph

Within Vinony's link graph, CFC1 is referenced by 5 other articles, and connects out to PubMed, human chromosome 2 and Ensembl genome database project.

Vinony files it under Embryology, Genes on human chromosome 2 and Human proteins.

Its subject is documented across 5 Wikipedia language editions.

Gene data

CFC1

Name: cryptic, EGF-CFC family member 1
Type: protein-coding
Position: 130,592,165–130,599,575 (−)
Aliases: CRYPTIC, DTGA2, HTX2
Ensembl: ENSG00000136698
RefSeq RNA: NM_001270420.2, NM_001270421.2, NM_032545.4, XM_011511486.4, XM_054343017.1
RefSeq protein: NP_001257349.1, NP_001257350.1, NP_115934.1, XP_011509788.1, XP_054198992.1

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].