GENE NAME | CFC1 |
CHROMOSOME | 2 |
ENSEMBL ID | ENSG00000136698 |
ENTREZ ID | 55997 |
UNIPROT ACCESSION NUMBER | P0CG37 |
GO MOLECULAR FUNCTION | nodal binding; activin receptor binding; molecular_function; signaling receptor binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-1266738; R-HSA-1433617; R-HSA-1181150 |
1 combination linked to CFC1 | OLI150 |
2 variants linked to CFC1 | CFC1:c.61A>C, p.Asn21His; CFC1:c.140G>A, p.Arg47Gln |
1 disease linked to CFC1 | Transposition of the great arteries |