GENE NAME | FOXH1 |
CHROMOSOME | 8 |
ENSEMBL ID | ENSG00000160973 |
ENTREZ ID | 8928 |
UNIPROT ACCESSION NUMBER | O75593 |
GO MOLECULAR FUNCTION | protein binding; DNA-binding transcription activator activity, RNA polymerase II-specific; transcription cis-regulatory region binding; sequence-specific DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific; cis-regulatory region sequence-specific DNA binding; DNA-binding transcription factor activity; DNA binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-1266738; R-HSA-9006936; R-HSA-1181150; R-HSA-1502540; R-HSA-162582 |
1 combination linked to FOXH1 | OLI149 |
1 variant linked to FOXH1 | FOXH1:c.61C>T, p.Pro21Ser |
1 disease linked to FOXH1 | Transposition of the great arteries |