Details for Gene FOXH1

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

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