Details for Gene LHX4

GENE NAME LHX4
CHROMOSOME 1
ENSEMBL ID None
ENTREZ ID ENSG00000121454
UNIPROT ACCESSION NUMBER Q969G2
GO MOLECULAR FUNCTION ['sequence-specific DNA binding', 'DNA-binding transcription activator activity, RNA polymerase II-specific', 'DNA-binding transcription factor activity, RNA polymerase II-specific', 'sequence-specific double-stranded DNA binding', 'methyl-CpG binding', 'protein binding', 'RNA polymerase II transcription regulatory region sequence-specific DNA binding', 'metal ion binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-1266738; R-HSA-376176; R-HSA-422475; R-HSA-9010553; R-HSA-9675108
6 combinations linked to LHX4 OLI1529; OLI960; OLI1160; OLI1163; OLI1172; OLI1162
4 variants linked to LHX4 LHX4:c.359G>A, p.Cys120Tyr; LHX4:c.913G>T, p.Gly305Trp; LHX4:c.384C>T, p.Asp128=; LHX4:c.385G>A, p.Glu129Lys
3 diseases linked to LHX4 Non-acquired combined pituitary hormone deficiency; 46,XY disorder of sex development; Kallmann syndrome

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