Details for Gene FOXC1

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 OLI249; OLI248; OLI253
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

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