GENE NAME | FOXC1 |
CHROMOSOME | 6 |
ENSEMBL ID | ENSG00000054598 |
ENTREZ ID | 2296 |
UNIPROT ACCESSION NUMBER | Q12948 |
GO MOLECULAR FUNCTION | protein binding; DNA-binding transcription factor activity; DNA binding; DNA binding, bending |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | |
3 combinations linked to FOXC1 | OLI253; OLI248; OLI249 |
2 variants linked to FOXC1 | FOXC1:c.379C>T, p.Arg127Cys; FOXC1:c.609delC, p.Ala204ArgfsTer111 |
3 diseases linked to FOXC1 | Congenital glaucoma; Axenfeld-Rieger syndrome; Rare congenital non-syndromic heart malformation |