CFC1
Sign in to saveAlso known as cripto, FRL-1, cryptic family 1, AV265756, b2b970Clo, cryptic, CFC1B, DTGA2, HTX2
protein-coding gene in the species Homo sapiens
Gene data
CFC1- Name
- cryptic, EGF-CFC family member 1
- Type
- protein-coding
- Aliases
- CRYPTIC, DTGA2, HTX2
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].
via MyGene.info
Gene · Ensembl
cryptic, EGF-CFC family member 1
- Symbol
- CFC1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 2:130,592,165-130,599,575
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 50007
- exact match
- identifiers.org/ncbigene/55997
- genomic start
- 130592165
- genomic end
- 131357123
- cytogenetic location
- 2q21.1
Sources (4)
via Wikidata · CC0